2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane and Calcinosis

Fahr's syndrome due to hypoparathyroidism refers to bilateral basal ganglia (BG) calcifications and manifests with movement disorders, seizures, cognitive and behavioral symptoms.. We report a case of a 74-year-old woman, who presented with parkinsonism due to post-surgical hypoparathyroidism and normal DaT scan, despite extensive calcifications of the BG, periventricular white matter, and cerebellum.. A comprehensive literature review of all reported cases of Fahr's syndrome due to hypoparathyroidism was conducted in the electronic databases PubMed and Web of science. Moreover, demographic and clinical characteristics of the patients overall were calculated and associated with radiological findings.. We reviewed a total of 223 cases with Fahr's syndrome due to hypoparathyroidism (124 female, 99 male). Mean age on presentation was 44.6 ± 17.7 years. Thirty nine percent of patients had idiopathic hypoparathyroidism, 35.4 % acquired and 25.6 % pseudohypoparathyroidism. Almost half of the patients had tetany, seizures or a movement disorder and approximately 40 % neuropsychiatric symptoms. The patients with a movement disorder had a 2.23 likelihood of having neuropsychiatric symptoms as well (OR 2.23, 95 % CI 1.29-3.87). Moreover, there was a statistically significant association between the phenotype severity (i.e. the presence of more than one symptom) and the extent of brain calcifications (χ. Fahr's syndrome is a rare disorder, which nonetheless manifests with several neurological symptoms. A head CT should be considered for patients with hypoparathyroidism and neurological symptoms. More studies using DaT scan are needed to elucidate the effects of calcifications on the dopaminergic function of the BG.

Topics: Aged; Basal Ganglia Diseases; Calcinosis; Female; Humans; Hypoparathyroidism; Magnetic Resonance Imaging; Neurodegenerative Diseases; Nortropanes; Parkinsonian Disorders; Positron-Emission Tomography; Postoperative Complications; Severity of Illness Index; Thyroidectomy; Tomography, X-Ray Computed

Mutations in XPR1, a gene encoding an inorganic phosphate exporter, have recently been identified in patients with primary familial brain calcification (PFBC). Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation. XPR1 variants were tested in an in vitro physiological complementation assay and patient blood cells were assessed ex vivo for phosphate export. We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction. Brain (123)I-Ioflupane scintigraphy showed marked dopaminergic neuron loss. Peripheral blood cells from the patient exhibited decreased phosphate export. XPR1 in which we introduced the mutation was not detectable at the cell surface and did not lead to phosphate export. These results confirm that loss of XPR1-mediated phosphate export function causes PFBC, occurring in less than 8 % of cases negative for the other genes, and may be responsible for parkinsonism.

Topics: Adult; Brain Diseases; Calcinosis; Family Health; Female; Genetic Association Studies; Humans; Magnetic Resonance Imaging; Male; Mutation; Nortropanes; Radionuclide Imaging; Receptors, G-Protein-Coupled; Receptors, Virus; RNA, Small Interfering; Transfection; Xenotropic and Polytropic Retrovirus Receptor

Topics: Basal Ganglia Diseases; Brain; Calcinosis; Cognition Disorders; Diagnosis, Differential; Female; Humans; Middle Aged; Movement Disorders; Nortropanes; Radiopharmaceuticals; Tomography, Emission-Computed, Single-Photon