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, te...

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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
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Abstract	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.
AbstractList	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.
Author	Zawawi, T.H. Barron, L. Brock, D.J.H. Gasim, A. Johnston, W.J. Krishna, A.G. Scrimgeour, E.M.
Author_xml	– sequence: 1 givenname: E.M. surname: Scrimgeour fullname: Scrimgeour, E.M. organization: Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia – sequence: 2 givenname: A.G. surname: Krishna fullname: Krishna, A.G. organization: Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia – sequence: 3 givenname: A. surname: Gasim fullname: Gasim, A. organization: Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia – sequence: 4 givenname: T.H. surname: Zawawi fullname: Zawawi, T.H. organization: Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia – sequence: 5 givenname: W.J. surname: Johnston fullname: Johnston, W.J. organization: Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia – sequence: 6 givenname: L. surname: Barron fullname: Barron, L. organization: Human Genetics Unit, University of Edinburgh, Edinburgh EH4 2XU, Scotland, UK – sequence: 7 givenname: D.J.H. surname: Brock fullname: Brock, D.J.H. organization: Human Genetics Unit, University of Edinburgh, Edinburgh EH4 2XU, Scotland, UK
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Keywords	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
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SubjectTerms	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
Title	Friedreich's ataxia, with retained lower limb tendon reflexes, in a Saudi Arabian family
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