Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion

2002 ◽  
Vol 17 (3) ◽  
pp. 585-589 ◽  
Author(s):  
Danqing Zhu ◽  
Christopher Burke ◽  
Anthony Leslie ◽  
Garth A. Nicholson
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Compound Heterozygosity ◽  
Gaa Expansion

GAA expansion size and age at onset of Friedreich's ataxia

Neurology ◽  
2003 ◽  
Vol 61 (2) ◽  
pp. 274-275 ◽  
Author(s):  
I. Mateo ◽  
J. Llorca ◽  
V. Volpini ◽  
J. Corral ◽  
J. Berciano ◽  
...  
Keyword(s):  
Age At Onset ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Gaa Expansion

scholarly journals Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Vamshi K. Rao ◽  
Christine J. DiDonato ◽  
Paul D. Larsen
Keyword(s):  
Point Mutation ◽  
Nonsense Mutation ◽  
Point Mutations ◽  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
The Other ◽  
Compound Heterozygous ◽  
Compound Heterozygosity ◽  
Nonsense Mutations

Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich’s ataxia and nonsense mutations are a further rarity among point mutations. We report a rare compound heterozygous Friedrich’s ataxia patient who was found to have one expanded GAA FXN allele and a nonsense point mutation in the other. We summarize the four previously published cases of nonsense mutations and compare the phenotype to that of our patient. We compared clinical information from our patient with other nonsense FXN mutations reported in the literature. This nonsense mutation, to our knowledge, has only been described once previously; interestingly the individual was also of Cuban ancestry. A comparison with previously published cases of nonsense mutations demonstrates some common clinical characteristics.

scholarly journals Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases

2001 ◽  
Vol 56 (5) ◽  
pp. 143-148 ◽  
Author(s):  
Lilian M. J. Albano ◽  
Mayana Zatz ◽  
A. Kim Chong ◽  
Débora Bertola ◽  
Sofia M. M. Sugayama ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Age At Onset ◽  
Cranial Nerves ◽  
Autosomal Recessive Inheritance ◽  
Molecular Study ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Gaa Expansion ◽  
Neurologic Findings

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.

Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia

Neurology ◽  
1997 ◽  
Vol 49 (6) ◽  
pp. 1617-1620 ◽  
Author(s):  
M. Ragno ◽  
G. De Michele ◽  
F. Cavalcanti ◽  
L. Pianese ◽  
A. Monticelli ◽  
...  
Keyword(s):  
Gene Cloning ◽  
Late Onset ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Spastic Ataxia ◽  
Gaa Expansion

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

Neurology ◽  
1997 ◽  
Vol 49 (4) ◽  
pp. 1153-1155 ◽  
Author(s):  
C. Gellera ◽  
D. Pareyson ◽  
B. Castellotti ◽  
F. Mazzucchelli ◽  
B. Zappacosta ◽  
...  
Keyword(s):  
Late Onset ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Gaa Expansion

Otoneurological Findings in Friedreich's Ataxia and Other Inherited Neuropathies

1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Inherited Neuropathies
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