Literature DB >> 12172062

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

Byeong-Chae Kim1, Myeong-Kyu Kim, Ki-Hyun Cho, Beom S Jeon.   

Abstract

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.

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Year:  2002        PMID: 12172062      PMCID: PMC3054916          DOI: 10.3346/jkms.2002.17.4.577

Source DB:  PubMed          Journal:  J Korean Med Sci        ISSN: 1011-8934            Impact factor:   2.153


  2 in total

1.  Spinocerebellar ataxia type 7: Report of an Indian family.

Authors:  Gurusidheshwar M Wali
Journal:  Ann Indian Acad Neurol       Date:  2013-10       Impact factor: 1.383

2.  Spinocerebellar Ataxia Type 7 Sans Retinal Degeneration: A Phenotypic Variability.

Authors:  Rohan R Mahale; Anish Mehta; Abhishek Miryala; Rangasetty Srinivasa
Journal:  Ann Indian Acad Neurol       Date:  2017 Oct-Dec       Impact factor: 1.383

  2 in total

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