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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
See this aricle in Pubmed

Article Abstract
One hundred forty of the 187 patients,with ages at onset ranging from 2 to 51 years,were homozygous for a CAA expansion that had 120 to 1700 repeats of the trinucleotides.About one quarter of the patients,despite being homozygous,had atypical Friedreich's ataxia;they were older at presentation and had intact tendon reflexes.Larger GAA expansions correlated with earlier age at onset and shorter times to loss of ambulation.The size of the GAA expansions(and particularly that of the smaller of each pair)was associated with the frequency of cardiomyopathy and loss of reflexes in the upper limbs.The GAA repeats were unstable during transmission.The clinical spectrum of Friedreich's ataxia is broader than previously recognized,and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis,determination of prognosis,and genetic counseling.
 
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areflexia
ataxia
ataxia,cerebellar
ataxia,hereditary
ataxic gait
Babinski sign
cardiomyopathy
chromosomal abnormality
chromosome 9
clubfoot as related to neurologic disease
consanguinity
deep tendon reflexes
diabetes mellitus
dysarthria
dysmorphic
frataxin
Friedreich's ataxia
gene
genetic counselling
genetic neurologic disorders
genetic testing
hearing loss
hyperreflexia
leg weakness,bilateral
mental retardation
molecular genetics
neurologic disease,diagnoses of
neuropathy
pes cavus
prognosis
review article
scoliosis
trinucleotide repeats
wheelchair

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