title: [Spinocerebellar ataxia type 36 (nicknamed Asidan)].
abstract: We report the phenotype of spinocerebellar ataxia type 36 (SCA36), which is a novel type of dominant cerebellar ataxia nicknamed as "Asidan," caused by the expansion of a hexanucleotide GGCCTG repeat in intron 1 of the nucleolar protein 56 (NOP56) gene. Age at the onset of ataxia was 53.1 (3.4) years (mean[SD]). Truncal ataxia was the most frequent initial symptom (100%), followed by ataxic dysarthria (100%), limb ataxia (93%), and general hyperreflexia (79%). Tongue fasciculation and subsequent atrophy were observed in 71% of the cases, especially in those of a longer duration. Skeletal muscle fasciculation and atrophy in the limbs and trunk were also observed in 57% of the cases. To our knowledge, we describe for the first time a unique clinical feature of Asidan (SCA36)--relatively pure cerebellar ataxia with progressive motor neuron involvement during the course of disease-that puts SCA36 at the crossroad of SCA and amyotrophic lateral sclerosis.
authors.affiliation: Department of Neurology, Okayama University Graduate School of Medicine, Okayama, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
mesh_terms: D017668:Age of Onset; D004252:DNA Mutational Analysis; D006801:Humans; D007438:Introns / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion
chemical_list: C486600:NOP56 protein, human; D009687:Nuclear Proteins