vitamin-b-12 and Neurodegenerative-Diseases

A century ago a fat-soluble vitamin from leafy vegetables, later named vitamin E, was discovered to enhance fertility in animals. Vitamin E consists of 8 isomers of tocopherols and tocotrienols, each containing chromanol groups that confer antioxidant properties and differ only in the 15-carbon saturated phytyl poly-isoprenoid side chain of tocopherols and the 15-carbon unsaturated farnesyl poly-isoprenoid side chain of tocotrienols. Although tocotrienol was first isolated from rubber plants in 1964, its importance in multiple disease processes was not recognized until two decades later, when the cholesterol-lowering and anti-cancer effects were first reported. Tocotrienol (T3) protects against radiation injury and mitochondrial dysfunction by preventing opening of the mitochondrial permeability transition pore, thereby inhibiting loss of the active site for oxidative phosphorylation, thioretinaco ozonide oxygen ATP, from mitochondria by complex formation with the active site, TR

Topics: Aging; Animals; Arteriosclerosis; Cholesterol; Diterpenes; Homocysteine; Humans; Mitochondria; NAD; Neoplasms; Neurodegenerative Diseases; Oxidation-Reduction; Oxidative Phosphorylation; Permeability; Squalene; Tocotrienols; Vitamin B 12

Moderately elevated plasma total homocysteine (tHcy) is a strong modifiable risk factor for vascular dementia and Alzheimer's disease. Prospectively, elevated tHcy is associated with cognitive decline, white matter damage, brain atrophy, neurofibrillary tangles, and dementia. Most homocysteine-lowering trials with folate and vitamins B6 and/or B12 tested as protective agents against cognitive decline were poorly designed by including subjects unlikely to benefit during the trial period. In contrast, trials in high-risk subjects, which have taken into account the baseline B vitamin status, show a slowing of cognitive decline and of atrophy in critical brain regions, results that are consistent with modification of the Alzheimer's disease process. Homocysteine may interact with both risk factors and protective factors, thereby identifying people at risk but also providing potential strategies for early intervention. Public health steps to slow cognitive decline should be promoted in individuals who are at risk of dementia, and more trials are needed to see if simple interventions with nutrients can prevent progression to dementia.

Topics: Aging; Animals; Biomarkers; Cerebrovascular Circulation; Cognition Disorders; Cognitive Dysfunction; Dietary Supplements; Evidence-Based Medicine; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Neurodegenerative Diseases; Nootropic Agents; Nutritional Status; Practice Guidelines as Topic; Risk Factors; Vitamin B 12; Vitamin B 6

Many nutrients are known for a wide range of activities in prevention and alleviation of various diseases. Recently, their potential role in regulating human health through effects on epigenetics has become evident, although specific mechanisms are still unclear. Thus, nutriepigenetics/nutriepigenomics has emerged as a new and promising field in current epigenetics research in the past few years. In particular, polyphenols, as part of the central dynamic interaction between the genome and the environment with specificity at physiological concentrations, are well known to affect mechanisms underlying human health. This review summarizes the effects of dietary compounds on epigenetic mechanisms in the regulation of gene expression including expression of enzymes and other molecules responsible for drug absorption, distribution, metabolism and excretion in cancer, metabolic syndrome, neurodegenerative disorders and hormonal dysfunction.

Topics: Antineoplastic Agents; Coffee; Curcumin; Diet; Epigenesis, Genetic; Folic Acid; Food; Gene Expression Regulation; Gene Expression Regulation, Neoplastic; Humans; Metabolic Syndrome; Neoplasms; Neurodegenerative Diseases; Phytoestrogens; Polyphenols; S-Adenosylmethionine; Selenium; Trace Elements; Vitamin B 12; Vitamin B Complex; Vitamins

Vitamin B(12)(vB(12)) deficient is regarded as iatrogenic in some cases. Although the recommended oral intake of vB(12) has been determined, administration of vB(12) exceeding the recommended dose could have multiple pharmacological effects. "Ultra-high dose" vB(12) therapy has been used for peripheral neuropathy and amyotrophic lateral sclerosis, suggesting its promising neuroprotective effects.

Topics: Amyotrophic Lateral Sclerosis; Humans; Neurodegenerative Diseases; Neuroprotective Agents; Peripheral Nervous System Diseases; Treatment Outcome; Vitamin B 12

Hyperhomocysteinemia is a risk factor for neurological diseases, but the underlying pathophysiology has not been adequately explained. Mild hyperhomocysteinemia, which is sometimes associated with a low plasma level of vitamin B9, B12 and folic acid, is responsible in the toxicity in neural cell by activating NMDA receptor. Indeed, even if vitamin supplementation has clearly proven its efficiency on lowering plasma levels of homocysteine, recent studies do not show any positive effect of vitamin therapy on cognitive function. The hypothesis that this therapy is inefficient has been recently reinforced by two randomized trials on the effects of vitamin supplementation. Several hypotheses still need to be explored: Mechanisms of homocysteine toxicity and that of total uselessness of vitamin supplementation; the possible need to complete the actual data with further, more powerful studies in order to prove the role of homocysteine in the development of neurodegenerative diseases and a clinical effect of vitamin therapy.

Topics: Aged; Brain; Cognition Disorders; Dietary Supplements; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Neurodegenerative Diseases; Nutritional Physiological Phenomena; Receptors, N-Methyl-D-Aspartate; Risk Factors; Vitamin B 12

Vitamin-B(12) is a generic term for corrinoid compounds that exhibit the biological activity of cyanocobalamin and are collectively referred to as cobalamins. Methylcobalamin and 5-deoxyadenosylcobalamin are the active cobalamins in human metabolism. Cobalamin plays a crucial role in the maintenance of homocysteine and methylmalonyl-CoA homeostasis and is required for erythrocyte formation and DNA synthesis. Data from human and animal studies indicate that cobalamin deficiency impairs neuronal function; a process that is thought to contribute to age-related cognitive decline and dementia. Cobalamin deficiency also results in dysfunction of the peripheral nervous system; among other disorders. Although there is a detailed understanding of the biochemical pathways that are perturbed in cobalamin deficiency, the mechanisms underlying age-related dyshomeostasis in such pathways remain to be addressed. Because cobalamin utilization is dependent on its efficient transit through lysosomes, and mounting evidence indicates that lysosomal function deteriorates in aging long-lived post-mitotic cells such as neurons, in the present article we review published data that supports the proposition that impaired lysosomal processing of cobalamin may play a significant role in age-related (neuro) degenerative diseases.

Topics: Age Factors; Biological Transport; Homeostasis; Humans; Lysosomes; Models, Biological; Neurodegenerative Diseases; Vitamin B 12

Moderate hyperhomocysteinemia (HHCY) is a risk factor for cardiovascular (CVD) and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy. Elderly persons have a high prevalence of HHCY. Vitamin deficiency is by far the most common cause of HHCY. Retrospective and prospective studies emphasize a causal relationship between HHCY and the CVD risk. Some vitamin intervention trials, however, did not lower the risk of CVD. From power calculation one can conclude that these trials may not involve sufficient numbers of patients to assure statistically valid conclusions. Re-analysis of the VISP study (excluding renal failure and vitamin B12 status tampering factors), however, detected a 21% decrease in the risk of stroke. This number has been confirmed by results from the HOPE 2 vitamin intervention trial. Folic acid enrichment of grain products in the US and Canada has led to a significant decline of stroke mortality, since 1998 annually 12900 fewer stroke deaths in the US and 2800 fewer stroke deaths in Canada. Despite negative results from secondary prevention trials regarding the CVD risk reduction there is convincing evidence about the effectiveness of B-vitamin supplementation in lowering the stroke risk. The overall decline in stroke risk calculated in meta-analysis from prospective studies and found in intervention trials is around 20%. Additionally, HHCY was recently linked to the occurrence and severity of chronic heart failure. HHCY is also a risk factor for osteoporotic fractures and vitamin treatment lowered the fracture risk significantly. Furthermore, there is a correlation between HHCY and cognitive disorders or Alzheimer's disease. HHCY is a predictive parameter for the decline in cognitive function. Hypomethylation is among the central mechanisms through which HHCY acts cytotoxically. HHCY and low folate are causal factors for pregnancy complications. In addition to the recommended folate supplementation, vitamin B12 supplementation could further decrease pregnancy complications. Determination of homocysteine plasma concentration should be part of the individual risk profile, especially for elderly subjects who are at risk for CVD, neurodegenerative diseases or osteoporotic fractures.

Topics: Age Factors; DNA Methylation; Female; Folic Acid; Heart Failure; Humans; Hyperhomocysteinemia; Neurodegenerative Diseases; Osteoporosis; Pregnancy; Pregnancy Complications; Risk Factors; Vitamin B 12

To assess the effects, associations, mechanisms of action, and safety of B vitamins and, separately, berries and their constituents on age-related neurocognitive disorders-primarily Alzheimer's (AD) and Parkinson's disease (PD).. MEDLINE and CAB Abstracts. Additional studies were identified from reference lists and technical experts.. Vitamins B1, B2, B6, B12, and folate, and a dozen types of berries and their constituents were evaluated. Human, animal, and in vitro studies were evaluated. Outcomes of interest from human studies were neurocognitive function or diagnosis with AD, cognitive decline, PD, or related conditions. Intervention studies, associations between dietary intake and outcomes, and associations between B vitamin levels and outcomes were evaluated. Specific mechanisms of action were evaluated in animal and in vitro studies. Studies were extracted for study design, demographics, intervention or predictor, and neurocognitive outcomes. Studies were graded for quality and applicability.. In animal studies, deficiencies in vitamins B1 or folate generally cause neurological dysfunction; supplementation with B6, B12, or folate may improve neurocognitive function. In animal experiments folate and B12 protect against genetic deficiencies used to model AD; thiamine and folate also affect neurovascular function and health. Human studies were generally of poor quality. Weak evidence suggests possible benefits of B1 supplementation and injected B12 in AD. The effects of B6 and folate are unclear. Overall, dietary intake studies do not support an association between B vitamin intake and AD. Studies evaluating B vitamin status were mostly inadequate due to poor study design. Overall, studies do not support an association between B vitamin status and age-related neurocognitive disorders. Only one study evaluated human berry consumption, finding no association with PD. Animal studies of berries have almost all been conducted by the same research group. Several berry constituents have been shown to affect brain and nerve tissue function. Blueberry and strawberry extract were protective of markers of disease, although effects on neurocognitive tests were less consistent. Berry extracts may protect against the deleterious effects of compounds associated with AD. Reporting of adverse events was uncommon. When reported, actual adverse events from B vitamins were rare and minor.. The current research on B vitamins is largely inadequate to confidently assess their mechanisms of action on age-related neurocognitive disorders, their associations with disease, or their effectiveness as supplements. B vitamin supplementation may be of value for neurocognitive function, but the evidence is inconclusive.

Topics: Aging; Alzheimer Disease; Animals; Blueberry Plants; Cognition; Disease Models, Animal; Folic Acid; Fragaria; Fruit; Humans; Neurodegenerative Diseases; Parkinson Disease; Plant Extracts; Riboflavin; Thiamine; Vitamin B 12; Vitamin B 6; Vitamin B Complex

Subacute combined degeneration (SCD) is a rare cause of demyelination of the dorsal and lateral columns of the spinal cord, and is a neurogenic complication due to vitamin B12 deficiency. This report concerns a patient with progressive sensory disturbance, but no abnormal neurological findings. A 73-year-old man with gastrectomy presented with a 6-month history of gradually worsening tingling in both hands. Magnetic resonance imaging (MRI) of the cervical spine clearly showed symmetrical high-signal areas on T2WI involving the posterior columns of the cervical cord from C2 through C6. A diagnosis of SCD of the spinal cord was considered and confirmed by laboratory findings. The patient was treated with vitamin B12 supplements and showed gradual improvement in his clinical symptoms. Repeat MRI of the cervical spine after 3 months indicated a slight decrease in the area of the abnormal signal. Among all the possible causes of myelopathy, SCD of the spinal cord, involving neurological complications due to vitamin B12 deficiency, is one of the less often encountered diseases. Nevertheless, SCD should be considered in the differential diagnosis of all spinal cord, peripheral nerve, and neuropsychiatric disorders.

Topics: Aged; Cervical Vertebrae; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Neurodegenerative Diseases; Spinal Cord; Vitamin B 12; Vitamin B 12 Deficiency

Over the last 10 years, there has been an explosion of interest in homocysteine, a sulfur-containing amino acid that occupies a central location in the metabolic pathways of thiol compounds. This interest is primarily because of the realization that hyperhomocysteinemia is an important risk factor for vascular disease, including stroke, independent of long-recognized factors such as hyperlipidemia, hypertension, diabetes mellitus, and smoking. Since elevated homocysteine levels can often be normalized by supplementing the diet with folic acid (folate), pyridoxine hydrochloride (vitamin B(6)), and cyanocobalamin (vitamin B(12)), these observations raise the exciting possibility that this inexpensive and well-tolerated therapy may be effective in decreasing the incidence of vascular disease. In addition to its association with cerebrovascular disease, homocysteine may play a role in neurodegenerative disorders, even if only as a marker of functional vitamin B(12) deficiency. Homocysteine is also important to neurologists since most anticonvulsants raise homocysteine levels, an effect that may explain the teratogenic effects of these drugs. Practical knowledge concerning some details of homocysteine metabolism, the diagnosis of hyperhomocysteinemia, and the use of polyvitamin therapy to lower homocysteine levels will be increasingly important in the treatment of patients with neurologic disease. Arch Neurol. 2000;57:1422-1428

Topics: Brain Diseases; Epilepsy; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Neurodegenerative Diseases; Pyridoxine; Vascular Diseases; Vitamin B 12

Topics: Animals; Brain; Humans; Neurodegenerative Diseases; Neuronal Plasticity; Vitamin B 12; Vitamins

Whilst the dangers of 'legal highs' have been widely publicised in the media, very few cases of the neurological syndrome associated with the inhalation of nitrous oxide (N. Case series documenting the clinical and investigational features of ten consecutive cases of subacute degeneration of the spinal cord presenting to a hospital with a tertiary neurosciences service in East London.. Sensory disturbance in the lower (± upper) limbs was the commonest presenting feature, along with gait abnormalities and sensory ataxia. MRI imaging of the spine showed the characteristic features of dorsal column hyperintensity on T. A high index of suspicion is required to prompt appropriate investigation, make the diagnosis and commence treatment early. This is the largest reported series of patients with subacute degeneration of the spinal cord induced by recreational use of N

Topics: Adolescent; Adult; Ataxia; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Male; Neurodegenerative Diseases; Nitrous Oxide; Retrospective Studies; Spinal Cord; Spinal Cord Diseases; Substance-Related Disorders; Vitamin B 12; Young Adult

Methionine is an essential amino acid found in rich quantities in average American diet such as meats, fish and eggs. Excessive consumption of such food often exceeds the normal requirement of the methionine in our body; which found to be related to the development of neurodegenerative disorders. However, the mechanistic pathways of methionine's influence on the brain are unclear. The present study is focus on the effects of high methionine, low folate and low vitamin B6/B12 (HM-LF-LV) diet on the dysfunction of neuronal and vascular specific markers in the brain. C57BL6/J male mice (8-10 week old) were fed with HM-LF-LV diet for a 6 week period. Cognitive function of mice was determine by measuring short-term memory using a Novel Object Recognition test (NORT). Neuronal dysfunction were evaluate by measuring the levels of Neuronal nuclear antigen (NeuN), Neuron-specific-enolase (NSE) and Fluoro-jade C(FJC) fluorescence; while cerebrovascular disruption were evaluate by assessing levels of endothelial junction proteins Vascular Endothelial-Cadherin (VE-Cadherin) and Claudin-5 in harvested brain tissue. Cerebrovascular permeability was assess by evaluating microvascular leakage of fluorescently labeled albumin in vivo. Endothelial and Neuronal Nitric Oxide Synthase (eNOS, nNOS) regulation and vascular inflammation (ICAM: intercellular adhesion molecules) were also evaluate in brain tissue. All assessments were conduct at weekly intervals throughout the study duration. NORT showed a significant temporal decrease in short-term memory of mice fed on HM-LF-LV diet for 6 weeks compared to the wild-type control group. Our experimental data showed that neuronal dysfunction (decreased NeuN levels and increased FJC positive neurons in brain) was more prominent in HM-LF-LV diet fed mice compared to normal diet fed control mice. In experimental mice, cerebrovascular disruption was found to be elevated as evident from increased pial venular permeability (microvascular leakage) and decreased in VE-Cadherin expression compared to control. Slight decrease in nNOS and increase in eNOS in experimental mice suggest a trend towards the decrease in potential for neuronal development due to the long-term HM-LF-LV diet fed. Collectively, our results suggest that a diet containing high methionine, low folate and low vitamin B6/B12 results in increased neuronal degeneration and vascular dysfunction, leading to short-term memory loss. Interestingly, significant neuronal damage pre

Topics: Animals; Dose-Response Relationship, Drug; Folic Acid; Male; Memory Disorders; Memory, Short-Term; Methionine; Mice; Mice, Inbred C57BL; Neurodegenerative Diseases; Vitamin B 12; Vitamin B 6; Vitamin B Complex

Topics: Aged; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Neurodegenerative Diseases; Olfaction Disorders; Spinal Cord; Vitamin B 12; Vitamin B Complex

Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs. We report on a cblC patient diagnosed in the newborn age who developed nearly normal during the first year of life. During an upper respiratory tract infection with severe hyperpyrexia at the age of 14months he developed an acute encephalopathic crisis resulting in severe mental retardation and marked internal and external cerebral atrophy. Hyperacute encephalopathic crises have not been observed so far in patients with cblC defect. It remains unclear, if this association is incidental or if the underlying metabolic defect may have predisposed the brain tissue to hyperpyrexia-induced damage.

Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Fever; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Neurodegenerative Diseases; Oxidoreductases; Vitamin B 12; Vitamin B 12 Deficiency

Clinical similarities between vitamin B(12) and copper deficiencies prompted us to investigate if hypocupremia is present in patients receiving vitamin B(12) supplementation. Our pilot study results indicate that a significant number of elderly patients with prior diagnosis of vitamin B(12) deficiency have also undiagnosed hypocupremia.

Topics: Aged; Aged, 80 and over; Case-Control Studies; Ceruloplasmin; Copper; Female; Humans; Male; Middle Aged; Neurodegenerative Diseases; Pilot Projects; Vitamin B 12; Vitamin B 12 Deficiency

Increased plasma total homocysteine (tHcy) is a risk factor for neurological diseases, but the underlying pathophysiology has not been adequately explained.. We evaluated concentrations of tHcy, S-adenosyl homocysteine (SAH), S-adenosyl methionine (SAM), folate, and vitamin B(12) in cerebrospinal fluid (CSF) and plasma or serum from 182 patients with different neurological disorders. We measured concentrations of phosphorylated tau protein (P-tau)((181P)) and beta-amyloid(1-42) in the CSF.. Aging was associated with higher concentrations of tHcy and SAH in the CSF, in addition to lower concentrations of CSF folate and lower SAM:SAH ratio. Concentrations of CSF SAH and CSF folate correlated significantly with those of P-tau (r = 0.46 and r = -0.28, respectively). Moreover, P-tau correlated negatively with SAM:SAH ratio (r = -0.40, P <0.001). The association between SAH and higher P-tau was observed in 3 age groups (<41, 41-60, and >60 years). CSF tHcy was predicted by concentrations of CSF cystathionine (beta = 0.478), folate (beta = -0.403), albumin (beta = 0.349), and age (beta = 0.298).. tHcy concentration in the brain is related to age, B vitamins, and CSF albumin. Increase of CSF SAH is related to increased CSF P-tau; decreased degradation of P-tau might be a plausible explanation. Disturbed methyl group metabolism may be the link between hyperhomocysteinemia and neurodegeneration. Lowering tHcy and SAH might protect the brain by preventing P-tau accumulation.

Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Amyloid beta-Peptides; Biomarkers; Cysteine; Female; Folic Acid; Humans; Male; Methylation; Middle Aged; Nervous System Diseases; Neurodegenerative Diseases; Peptide Fragments; Phosphorylation; S-Adenosylhomocysteine; tau Proteins; Vitamin B 12

Topics: Aged; Alzheimer Disease; Cognition; Cognition Disorders; Homocysteine; Humans; Methionine; Models, Biological; Models, Theoretical; Neurodegenerative Diseases; Vitamin B 12; Vitamins

Subacute combined degeneration (SCD) of the spinal cord is a characteristic complication of vitamin B12 deficiency, but it has never been neuropathologically demonstrated in a B12-inborn error of metabolism. In this report SCD is documented in a 15-year-old boy with early-onset cobalamin C (cblC) disorder. The neuropathologic findings included multifocal demyelination and vacuolation with predilection for the dorsal and lateral columns at the mid-thoracic level of the spinal cord, confirming the similarity of SCD in cblC disorder to the classic adult SCD due to vitamin B12 deficiency. SCD developed in this boy despite treatment for cblC disorder that began at 3 months of age. There is clinical and experimental evidence to suggest that a deficiency in remethylation with concomitant reduction in brain methionine may be the cause of SCD. In this patient plasma methionine levels were low without betaine and/or l-methionine supplementation and in the normal range for only a 2-year period during compliance with therapy. In cblC disorder, a consistent increase in blood methionine to high normal or above normal levels by the use of betaine and l-methionine supplementation may be helpful in preventing SCD. This is especially important now that the presymptomatic detection of cblC disorder is possible through the expansion of newborn screening.

Topics: Adolescent; Brain; Child; Child, Preschool; Fatal Outcome; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Male; Median Nerve; Metabolism, Inborn Errors; Muscle, Skeletal; Neurodegenerative Diseases; Spinal Cord; Spinal Cord Diseases; Vitamin B 12

Topics: Cervical Vertebrae; Demyelinating Diseases; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Nerve Fibers, Myelinated; Neural Pathways; Neurodegenerative Diseases; Spinal Cord; Spinal Cord Diseases; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

Elevated plasma total homocysteine (tHcy) is a risk factor for cardiovascular disease and is reported to be an independent risk factor for Alzheimer disease (AD) and cognitive decline. tHcy may potentiate neurotoxic and vasculopathic processes, including amyloid beta protein (Abeta) metabolism, implicated in neurodegenerative diseases.. To examine the relationship of plasma total tHcy levels with clinical, demographic, biochemical, and genetic factors in aging, mild cognitive impairment (MCI), AD, cerebral amyloid angiopathy (CAA), and Parkinson disease (PD).. Plasma tHcy, folate, vitamin B(12), creatinine, and Abeta levels were assessed in individuals evaluated in the Memory, Stroke, and Movement Disorders Units of Massachusetts General Hospital with diagnoses of AD (n = 145), MCI (n = 47), PD (n = 93), CAA (67), hypertensive intracerebral hemorrhage (hICH) (n = 25), and no dementia (n = 88).. The tHcy levels did not differ across AD, MCI, CAA, hICH, and nondemented control subjects but were increased in the PD group (p < 0.01). The elevated levels within the PD group were due to high tHcy in individuals taking levodopa (p < 0.0001). Increasing tHcy was associated with worse cognition in the PD cases, but not the other diagnostic groups. tHcy levels positively correlated with plasma Abeta levels even after adjustments for age and creatinine (p < 0.0001).. Mean tHcy levels increased with age but did not discriminate diagnostic groups aside from significant elevation in patients with PD taking levodopa. The positive association between tHcy and plasma Abeta levels raises the possibility that these circulating factors could interact to affect AD risk and cognition in PD.

Topics: Aged; Aged, 80 and over; Aging; Alzheimer Disease; Amyloid beta-Peptides; Brain; Causality; Cerebral Amyloid Angiopathy; Cognition Disorders; Creatinine; Female; Folic Acid; Homocysteine; Humans; Levodopa; Male; Memory Disorders; Middle Aged; Neurodegenerative Diseases; Parkinson Disease; Predictive Value of Tests; Vitamin B 12

A 40-year-old woman was admitted to our hospital because of pancytopenia with megaloblastic anemia. Two months later she complained of rapidly progressive gait disturbance and numbness in the distal part of limbs. She also told that her hair had turned totally gray in the third decade. Neurologically, mental state, cranial nerves and cerebellar functions were normal. Superficial sensations were impaired below the lower thoracic level and deep sensations were completely lost in the lower limbs. Moderate weakness was found in the lower limbs, symmetrically. Deep tendon reflexes were diminished in the upper limbs and absent in the lower limbs. Babinski's reflex was positive bilaterally. MR images of the spinal cord showed hyperintensity in the posterior column below the thoracic cord. Although the serum level of vitamin B12 was within normal range, serum homocysteine level was elevated markedly. Under the diagnosis of subacute combined degeneration (SCD) due to possible vitamin B12 deficiency, the treatment with intravenous injections of 500 micrograms/day of mecobalamin was undertaken. Muscle strength and sensory impairment improved progressively and she became able to walk with a cane. The coloration of her gray hair was also noted. After treatment, pancytopenia and megaloblastic anemia also markedly improved. Vitamin B12 became high in serum concentration and the serum level of homocysteine became normal. These clinical and laboratory findings support the diagnosis of SCD with normal serum level of vitamin B12 in our case, suggesting that the level of vitamin B12 in serum does not always correlate with that in tissue and, therefore, SCD should not be excluded just only by the reason of normal serum vitamin B12 level.

Topics: Adult; Anemia, Megaloblastic; Female; Homocysteine; Humans; Neurodegenerative Diseases; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

We present a case of vitamin B12 deficiency and subacute combined degeneration in a patient with a gastrectomy. MRI showed high-signal lesions on T2-weighted images in both the posterior and anterior columns, associated with minor thoracic spinal cord expansion. The patient was treated with B12 supplements and clinical improvement was associated with reduction of the size of the lesions on MRI.

Topics: Gastrectomy; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Middle Aged; Neurodegenerative Diseases; Spinal Cord; Spinal Cord Diseases; Vitamin B 12; Vitamin B 12 Deficiency