Friedreich's ataxia, with retained lower limb tendon reflexes, in a Saudi Arabian family

• Published in: Clinical neurology and neurosurgery Vol. 98; no. 1; pp. 8 - 11
• Main Authors: Scrimgeour, E.M., Krishna, A.G., Gasim, A., Zawawi, T.H., Johnston, W.J., Barron, L., Brock, D.J.H.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 01.02.1996; Elsevier Science
• Subjects: Adult; Atrophy - physiopathology; Biological and medical sciences; Cerebellum - physiopathology; Chromosome 9; Chromosomes, Human, Pair 9; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Electronic Data Processing; Female; Friedreich Ataxia - diagnosis; Friedreich Ataxia - genetics; Friedreich Ataxia - physiopathology; Friedreich's ataxia; Humans; Leg - physiology; Male; Medical sciences; Neurology; Pedigree; Recessive inheritance; Reflex, Stretch - physiology; Saudi Arabia; Spinal Cord - physiopathology; Saudi Arabia; Asia; Saudi Arabia; Friedreich's ataxia; Chromosome 9; Recessive inheritance; Human; Nervous system diseases; Family study; Exploration; Cerebral disorder; Genetic disease; Polymerase chain reaction; DNA; Central nervous system disease; Degenerative disease; Friedreich ataxia; Molecular biology; Spinal cord disease
• ISSN: 0303-8467; 1872-6968
• DOI: 10.1016/0303-8467(95)00070-4

Friedreich's ataxia (FA) was studied in a large inbred Arab family living near Jeddah, Saudi Arabia, in which DNA linkage studies localised the disease gene to 9q13-q21.1. Five siblings (aged 19–35 years), and their 27 year old cousin, had the typical features of FA, however in two patients, tendon reflexes were retained and were indeed brisk in the lower limbs, 13 and 19 years respectively after onset of symptoms: retention of lower limb tendon reflexes is exceptional in FA. Another 6 deceased individuals from two related families are presumed to have had FA.