Friedreich's ataxia, with retained lower limb tendon reflexes, in a Saudi Arabian family.
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.
Scrimgeour
E M
EM
Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia.
Krishna
A G
AG
Gasim
A
A
Zawawi
T H
TH
Johnston
W J
WJ
Barron
L
L
Brock
D J
DJ
D000328:Adult; D001284:Atrophy / Q000503:physiopathology; D002531:Cerebellum / Q000503:physiopathology; D002899:Chromosomes, Human, Pair 9; D001330:Electronic Data Processing; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007866:Leg / Q000502:physiology*; D008297:Male; D010375:Pedigree; D012026:Reflex, Stretch / Q000502:physiology*; D012529:Saudi Arabia; D013116:Spinal Cord / Q000503:physiopathology