Intrafamilial variability in Machado-Joseph disease
- 1 November 1996
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 11 (6) , 741-743
- https://doi.org/10.1002/mds.870110625
Abstract
Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa‐responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado‐Joseph disease.Keywords
This publication has 4 references indexed in Scilit:
- HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindredsActa Neurologica Scandinavica, 2009
- Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1Nature Genetics, 1995
- THE CLINICAL FEATURES AND CLASSIFICATION OF THE LATE ONSET AUTOSOMAL DOMINANT CEREBELLAR ATAXIASBrain, 1982
- Autosomal dominant system degeneration in Portuguese families of the Azores IslandsNeurology, 1978