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Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging, and cerebrospinal fluid, imaging, and electrophysiological studies
Author(s) -
Manyam Bala V.,
Bhatt Mohit H.,
Moore William D.,
Devleschoward Allen B.,
Anderson Darrel R.,
Calne Donald B.
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310406
Subject(s) - cerebrospinal fluid , calcinosis , medicine , electrophysiology , neuroimaging , pathology , calcification , psychiatry
We report the genetic, clinical, electrophysiological, and imaging studies in a family with bilateral striopallidodentate calcinosis (Fahr's disease). The intracerebral calcium deposits occurred before onset of the symptoms in the third decade of life. Progressive neurological deterioration occurred in the fifth decade of life in the proband. Cerebrospinal fluid homocarnosine, a central nervous system–specific peptide, was increased twofold in patients with autosomal dominant bilateral striopallidodentate calcinosis; in sporadic cases, there was no detectable homocarnosine and a decreased level of histidine. With advancing age, the amount of calcification increase, but it has not been determined if a critical amount must be reached before symptoms occur. Computerized tomography is superior to magnetic resonance imaging for radiological diagnosis. Despite diffuse striatal calcification, striatal 6‐[ 18 F]fluoro‐ L ‐dopa uptake did not reveal any difference between patients and control subjects, from which we infer persisting integrity of the nigrostriatal dopaminergic pathway.