Tohoku J. Exp. Med., 2005, 207(1)

Case Report

Unique Cerebellar-Cerebral Form of Autosomal Recessive Ataxia

ETSURO MATSUBARA, TETSUYA NAGATA, YASUHIKO KAGEYAMA, MITO SHIOTE, REIKO NAMBA,¹ ISAO NAGANO, MIKIO SHOJI and KOJI ABE

Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University, Okayama, Japan and ¹Namba Clinic, Okayama, Japan

We describe a unique condition affecting two siblings with a form of progressive spinocerebellar ataxia. After a period of very slowly progressive ataxia, the patients developed an extremely accelerated progression of the condition which consisted of cerebellar ataxia, seizure, progressive dementia and spastic tetraparesis. Age of onset was variable at 7 to 18 years. Brain magnetic resonance image (MRI) showed marked atrophy of the cerebellum and cerebrum with strikingly preserved brainstem dimensions. Biochemical or molecular genetic analysis was performed in an elder sister and her parents to exclude known forms of familial spinocerebellar ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), progressive myoclonic epilepsy, and some metabolic disorders which could have a similar phenotype. The mode of inheritance appears to be autosomal recessive. We think that the affected siblings may have a new type of autosomal recessive cerebellar ataxia.

keywords ——cerebellar ataxia; seizures; myoclonus; dementia; spastic tetraparesis

© 2005 Tohoku University Medical Press

===============================

Present address for Etsuro Matsubara, M.D., Ph.D., Department of Alzheimer's Disease Research, National Institute for Longevity Sciences, National Center for Geriatrics and Gerontology, 36-3 Gengo, Morioka-machi, Obu, Aichi 474-8522, Japan.

e-mail: etsuro@nils.go.jp