The Huntington's disease gene contains an expanded unstable (CAG) n repeat, and the
repeat lengths have been shown to correlate with the age of onset. Using detailed clinical …

The DYT1 gene recently has been cloned and shown to contain a three nucleotide (GAG)
deletion responsible for most cases of autosomal dominant early-onset torsion dystonia …

Autosomal recessive juvenile parkinsonism (AR‐JP) is a form of hereditary parkinsonism
characterized by variable clinical presentations and caused by mutations in a novel gene …

The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most
cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish …

E ditor—Wilson disease (WD), or hepatolenticular degeneration, is an autosomal recessive
disorder of copper transport characterised by toxic accumulation of copper in a number of …

Abstract Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar
ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant gene. We …

Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of
movement disorders. The most severe and frequent form of hereditary torsion dystonia is …

Objective To search for mutations in the GTP cyclohydrolase I (GCH-I) gene in a set of
Russian families with dopa-responsive dystonia (DRD). Design Six large families with 54 …

We examined a large family in which an X‐linked recessive congenital ataxia manifested in
7 males from three generations. The affected boys first exhibited a marked delay of early …

Autosomal recessive progressive muscular dystrophies may be clinically subclassified into
limb-girdle muscular dystrophy (LGMD) and distal myopathy (DM), each clinical form being …