A novel autosomal recessive ''Huntington's disease-like'' neurodegenerative disorder in a Saudi family. Abdelra/unau Y. Al-Talum, MD, FRCP, Madai P.
A novel autosomal recessive ''Huntington's disease-like'' neurodegenerative disorder in a Saudi family Abdelra/unau Y. Al-Talum, MD, FR CP, Madai P. Divakarau, MD, MRCP, Marios Kambouris, PhD, FACMC, Saeed Ho!tlega, MD. FRCP, Mustqf'a Salih, PhD. MRCP, Adesola Ogunniyi, FWACP, Hussein Al-Giummi, MRCP.
ABSTRACT Objectin•s: To study a Saudi famil y affected by an unu sua l neurological disorder, in order to clarify its different clinical. inves tigational and genetic aspects. Methods: Patients were identified through a preliminary clini c.al examination of all family members and their relati ves. Then they underwent a meticulous clinical assessment and detailed general and metabolic investigations, neurophysiological and radiological tests, and genetic analysis
manifests at an early age with mental deterioration , speech di sturbance, dystonia and other extrapyramidal and pyramidal features . Although res ults of genetic studies excluded Huntington's disease, they also indicate that the Huntington gene is a genetic marker for thi s disease. Conclusion: This family suffers from a novel neurodegenerative inherited disease, the gene of whom is probably localized on chroniosome 4. Keywords:
Results: Five siblings suffered from an autosomal recess ive. disorder simulating clinically and radiologically the rare juvenile Huntington' s disease. The disease
