Friedreich's ataxia presenting as adult-onset spastic paraparesis

Gates, Peter C., Paris, Damien, Forrest, Susan M., Williamson, Robert, and McKinlay Gardner, R.J. (1998) Friedreich's ataxia presenting as adult-onset spastic paraparesis. Neurogenetics, 1 (4). pp. 297-299.

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Abstract

We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia.

Item ID: 34535
Item Type: Article (Case Study)
Keywords: Friedreich's ataxia, frataxin, spastic paraparesis
ISSN: 1364-6753
Date Deposited: 27 Aug 2014 23:49
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1109 Neurosciences > 110904 Neurology and Neuromuscular Diseases @ 50%
11 MEDICAL AND HEALTH SCIENCES > 1109 Neurosciences > 110905 Peripheral Nervous System @ 30%
11 MEDICAL AND HEALTH SCIENCES > 1103 Clinical Sciences > 110311 Medical Genetics (excl Cancer Genetics) @ 20%
SEO Codes: 97 EXPANDING KNOWLEDGE > 970111 Expanding Knowledge in the Medical and Health Sciences @ 30%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920111 Nervous System and Disorders @ 40%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 30%
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