title: Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan).
abstract: OBJECTIVE
  To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene.
  
  
  METHODS
  We investigated the clinical, genetic, and neuropathologic characteristics of 18 patients with SCA36. We performed histologic evaluation of a muscle biopsy specimen from 1 patient with SCA36, and neuropathologic evaluation of an autopsied brain from another patient with SCA36.
  
  
  RESULTS
  The (GGCCTG)n expansion was found in 18 ataxic patients from 9 families. The age at onset of ataxia was 53.1 ± 3.4 years, with the most frequent symptoms being truncal ataxia (100% of patients), ataxic dysarthria (100%), limb ataxia (93%), and hyperreflexia (79%). Tongue fasciculation and subsequent atrophy were found in 71% of cases, particularly in those of long duration. Skeletal muscle fasciculation and atrophy of the limbs and trunk were found in 57% of cases. Lower motor involvement was confirmed by EMG and muscle biopsy. The neuropathologic study revealed significant cerebellar Purkinje cell degeneration with obvious loss of lower motor neurons. Immunohistochemical analysis showed that NOP56 was localized to the nuclei of various neurons. Cytoplasmic or intranuclear inclusion staining of NOP56, TDP-43, and ataxin-2 was not observed in the remaining neurons.
  
  
  CONCLUSIONS
  This is the first description of the unique clinical features of SCA36, a relatively pure cerebellar ataxia with progressive motor neuron involvement. Thus, SCA36 is a disease that stands at the crossroads of SCA and motor neuron disease.
authors: The Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
authors: Yoshio
authors: Y
authors: Ikeda
authors: Yasuyuki
authors: Y
authors: Ohta
authors: Hatasu
authors: H
authors: Kobayashi
authors: Miyuki
authors: M
authors: Okamoto
authors: Kazuhiro
authors: K
authors: Takamatsu
authors: Taisei
authors: T
authors: Ota
authors: Yasuhiro
authors: Y
authors: Manabe
authors: Koichi
authors: K
authors: Okamoto
authors: Akio
authors: A
authors: Koizumi
authors: Koji
authors: K
authors: Abe
mesh_terms: D017668:Age of Onset; D000368:Aged; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000473:pathology*; D009410:Nerve Degeneration / Q000235:genetics / Q000473:pathology*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology*; D019680:Trinucleotide Repeat Expansion
chemical_list: C486600:NOP56 protein, human; D009687:Nuclear Proteins