A novel autosomal recessive "Huntington's disease-like" neurodegenerative disorder in a Saudi family

Objectives: To study a Saudi family affected by an unusual neurological dis order, in order to clarify its different clinical, investigational and gene tic aspects. Methods: Patients were identified through a preliminary clinical examinatio n of all family members and their relatives. Then they underwent a meticulo us clinical assessment and detailed general and metabolic investigations, n europhysiological and radiological tests, and genetic analysis Results: Five siblings suffered from an autosomal recessive disorder simula ting clinically and radiologically the rare juvenile Huntington's disease. The disease manifests at an early age with mental deterioration, speech dis turbance, dystonia and other extrapyramidal and pyramidal features. Althoug h results of genetic studies excluded Huntington's disease, they also indic ate that the Huntington gene is a genetic marker for this disease. Conclusion: This family suffers from a novel neurodegenerative inherited di sease, the gene of whom is probably localized on chromosome 4.