| Literature DB >> 886353 |
F Boller, M Boller, J Gilbert.
Abstract
Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.Entities:
Mesh:
Year: 1977 PMID: 886353 PMCID: PMC492663 DOI: 10.1136/jnnp.40.3.280
Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN: 0022-3050 Impact factor: 10.154