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Journal of Child Neurology, Vol. 22, No. 7, 891-894 (2007)
DOI: 10.1177/0883073807304702

Spinocerebellar Ataxia Type 2 in a Turkish Family

Eray Dirik, MD

Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, Dokuz Eylul University

Uluc Yis, MD

Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, Dokuz Eylul University, ulyis{at}yahoo.com

Nazli Basak, PhD

Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey

Esra Soydan, PhD

Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey

Orkide Hüdaoglu, MD

Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, Dokuz Eylul University

Figen Özgönül, MD

Department of Pediatrics, Division of Child Neurology, Tepecik Education Hospital, Izmir

Autosomal dominant spinocerebellar ataxias are neurodegenerative disorders that generally present in adulthood. Due to extreme expansion of the repeat size during spermatogenesis, they can also be observed in childhood. The diagnosis in childhood is very difficult in the absence of family history. Here we describe an 8-year-old girl with spinocerebellar ataxia type 2 who presented with progressive ataxia, cognitive deficits, and dysarthria. A detailed family history exhibited similarly affected cases on the paternal side. Molecular testing for spinocerebellar ataxia type 2 revealed abnormal "cytosineadenine-guanosine" expansion in all affected family members. The number of cytosine-adenine-guanosine repeats in the index case was 70. The mean size of expansion in the relatives of the patient was 42 (39—46). This finding explains the early onset of symptoms in the index case.

Key Words: progressive ataxia • spinocerebellar ataxia


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Home page
 J Child NeurolHome page
M. B. Ramocki, L. Chapieski, R. O. McDonald, F. Fernandez, and A. D. Malphrus
Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood
J Child Neurol, September 1, 2008; 23(9): 999 - 1001.
[Abstract] [PDF]