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lactic acid and Machado-Joseph Disease

lactic acid has been researched along with Machado-Joseph Disease in 2 studies

Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.

Machado-Joseph Disease: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

Research Excerpts

ExcerptRelevanceReference
"SCA3 or Machado-Joseph disease (MJD) is the commonest dominant inherited ataxia disease, with pathological phenotypes apparent with a CAG triplet repeat length of 61-84."1.32Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. ( Cemal, CK; Griffin, JL; Pook, MA, 2004)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Griffin, JL1
Cemal, CK1
Pook, MA1
Matsuishi, T1
Sakai, T1
Naito, E1
Nagamitsu, S1
Kuroda, Y1
Iwashita, H1
Kato, H1

Other Studies

2 other studies available for lactic acid and Machado-Joseph Disease

ArticleYear
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3.
    Physiological genomics, 2004, Feb-13, Volume: 16, Issue:3

    Topics: Animals; Ataxin-3; Brain; Cerebellum; Choline; Disease Models, Animal; gamma-Aminobutyric Acid; Gluc

2004
Elevated cerebrospinal fluid lactate/pyruvate ratio in Machado-Joseph disease.
    Acta neurologica Scandinavica, 1996, Volume: 93, Issue:1

    Topics: Adult; Aged; Brain; Citric Acid Cycle; Female; Humans; Lactic Acid; Machado-Joseph Disease; Male; Mi

1996