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 disorder, in order to clarify its different clinical, investigational and genetic aspects. Methods: Patients were identified through a preliminary clinical examination of all family members and their relatives. Then they underwent a meticulous clinical assessment and detailed general and metabolic investigations, neurophysiological and radiological tests, and genetic analysis Results: Five siblings suffered from an autosomal recessive disorder simulating clinically and radiologically the rare juvenile Huntington's disease. The disease manifests at an early age with mental deterioration, speech disturbance, dystonia and other extrapyramidal and pyramidal features. Although results of genetic studies excluded Huntington's disease, they also indicate that the Huntington gene is a genetic marker for this disease. Conclusion: This family suffers from a novel neurodegenerative inherited disease, the gene of whom is probably localized on chromosome 4.