Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

doi:10.1136/jnnp.61.5.466

Back to search

Article

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 1996

Schöls L, Amoiridis G, Epplen J T, Langkafel M, Przuntek H, Riess O

Abstract excerpt

OBJECTIVE: Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia with extensive phenotypic variability originally described in families of Portuguese ancestry. Recently, the mutation causing the disease has been identified as an expanded CAG trinucleotide repeat. In this study r...

Topics

Adolescent
Adult
Age of Onset
Ataxia
Child
Female
Genotype
Germany
Humans
Linear Models
Machado-Joseph Disease
Male
Middle Aged
Mutation
Pedigree
Phenotype
Repetitive Sequences, Nucleic Acid

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.