title: Three spinocerebellar ataxia type 2 siblings with ataxia, parkinsonism, and motor neuronopathy.
abstract: Spinocerebellar ataxia type 2 (SCA2) represents a family of dominant neurodegenerative disorders that results from CAG expansion repeat mutations. The phenotype consists of some common features, most notably progressive ataxia. We describe three siblings with SCA2, manifesting parkinsonism and ataxia in the first sibling, juvenile parkinsonism in the second and motor neuronopathy in the third. Genetic examination revealed expansion to 42, 43, and 42 CAG repeats. There was no relationship between the number of repeats and phenotype. The SCA2 gene should be studied in families with heterogeneous neurodegenerative disorders, including motor neuron disease.
authors: Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan. n-nishi@m.ehime-u.ac.jp
authors: Noriko
authors: N
authors: Nishikawa
authors: Masahiro
authors: M
authors: Nagai
authors: Tomoaki
authors: T
authors: Tsujii
authors: Nachi
authors: N
authors: Tanabe
authors: Hiroshi
authors: H
authors: Takashima
authors: Masahiro
authors: M
authors: Nomoto
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D000067528:Ataxins; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins