Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two familial cases of idiopathic basal ganglia calcification. A 60-year-old proband with choreoathetosis, dysarthria, and cognitive decline showed more extensive brain calcinosis, hypoperfusion, and hypometabolism than did his asymptomatic 82-year-old mother. The mother had no frontal lobe calcinosis but basal ganglia and dentate nucleus depositions were detectable. Perfusion neuroimaging, however, was normal in the asymptomatic mother and abnormal in the clinically impaired proband. The presence of calcinosis cannot be used as an index of neurological impairment but the extent of calcinosis and reduction in perfusion and metabolism may be useful for separating symptomatic from asymptomatic subjects with IBGC. These findings suggest that an interruption of neuronal circuitry may cause neurological deficits. The degree of neurological deficits may correlate with the severity of calcinosis and the reduction of perfusion and metabolism.
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PMID:Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. 1735 30

Fahr's syndrome refers to a rare syndrome which is characterized by symmetrical and bilateral intracranial calcification. We are presenting a 63 year old male, who complained of progressive dysarthria of 6 months, which was associated with slowness of movements. His neurological examination revealed Parkinsonian features. His CT scan revealed a symmetrical large area of calcification over the basal ganglia, the thalamus and the cerebellum. The secondary causes of the bilateral calcification were ruled out to make the clinical diagnosis of Idiopathic Bilateral Striopallidodentate Calcinosis, which is otherwise called as the Fahr's syndrome. Deposits of calcium and minerals cannot be linked to a single chromosomal locus and further genetic studies are in progress for identifying the chromosomal locus of the disease.
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PMID:Fahr's Syndrome- An Interesting Case Presentation. 2363 13

Bilateral striopallidodentate calcinosis, commonly known as Fahr's disease is a rare clinical entity present mainly with extrapyramidal signs and accompanied with metabolic, biochemical, neuroradiological and neuropsychiatric situations. It is characterised by the symmetrical and bilateral intracranial deposition of calcium associated with cell loss in the basal ganglia, cerebral cortex and cerebellum.In this study, we discussed two brothers' cases of Fahr's diseases who presented with different symptomatology. The first presented with walking difficulty, cramps and dysarthria and moderate memory impairment whereas the second with vertigo, ataxia, forgetfulness and headache. CT scans of both patients revealed intracranial diffuse bilateral calcifications in the basal ganglia and the cerebellum. The second patient revealed progressive cerebral atrophy but reduction in the calcification. Fahr's disease, although encountered rarely, should also be taken into account in the differential diagnosis of cases with abnormal intracranial calcifications along with other familial, congenital and metabolic diseases and syndromes.
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PMID:Fahr's disease: bilateral symmetrical striopallidodentate calcification in two brothers with two distinct presentations. 2401 37