Article thumbnail

Spinocerebellar ataxia type 7 without retinal degeneration: a case report.

By Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho and Beom S. Jeon


A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat number of 42

Topics: Research Article
Publisher: Korean Academy of Medical Sciences
OAI identifier:
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles


  1. (1999). An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet
  2. (1998). Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet
  3. (1994). Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families.
  4. (1997). Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1. J Neurol Neurosurg Psychiatry
  5. (1996). Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.
  6. (1994). CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet
  7. (1998). CAG repeat expansion in the SCA7 in Korean families presenting clinical features compatible with ADCA Type II.
  8. (1993). Clinical features and classification of inherited ataxias.
  9. (1997). Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet
  10. (1998). Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet
  11. (1999). Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet
  12. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type
  13. Fig. 1. Photograph of the right fundus of the patient at the age of
  14. (2000). Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet.
  15. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet
  16. (1998). Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet
  17. (1998). Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology
  18. (1998). Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet
  19. (1997). Neither atrophy nor granular pigmentary changes are seen in the macula and optic disk. Fig. 2. The axial view of T1-weighted brain MRI shows a marked atrophy of the cerebellar hemispheres and 4th ventricular dilatation.SCA7 without
  20. (1999). Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics.
  21. (1994). Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet