Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families

Clinical Genetics

Volumn 59, Issue 4, 2001, Pages 257-262

  Marzouki, N ^a   Belal, S ^b   Benhamida, C ^b   Benlemlih, M ^a   Hentati, F ^b  

^a SIDI MOHAMED BEN ABDELLAH UNIVERSITY   (Morocco)

^b Institut National de Neurologie Tunisia   (Tunisia)

Author keywords

ADCA; Early onset cerebellar ataxia; Friedreich's ataxia; GAA repeat expansion mutation; Homozygosity mapping; Linkage analysis

Indexed keywords

ADENINE; ALPHA TOCOPHEROL; GUANINE;

ACCURACY; ADULT; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL OBSERVATION; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE CLASSIFICATION; FAMILY STUDY; FEMALE; FRIEDREICH ATAXIA; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; HEREDITARY ATAXIA; HOMOZYGOSITY; HUMAN; HYPOTHESIS; MALE; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; TENDON REFLEX; TRINUCLEOTIDE REPEAT; TUNISIA;

ADULT; AGE OF ONSET; BLOTTING, SOUTHERN; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CONSANGUINITY; DNA PRIMERS; FEMALE; FRIEDREICH ATAXIA; HOMOZYGOTE; HUMANS; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; REFLEX, STRETCH; TUNISIA; VITAMIN E DEFICIENCY;

ATAXIA;

EID: 0035052885     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590407.x     Document Type: Article

References (23)

1. Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes
2. Localization of Friedreich ataxia phenotype associated with selective vitamin E deficiency to proximal 8q by homozygosity mapping
3. Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent
4. Late onset Friedreich's ataxia: Clinical features and mapping of mutation to the FRDA locus
5. Cerebellar ataxia with retained tendon reflexes: A clinical and genetic study of a disorder distinct from Friedreich's ataxia
6. Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
7. Ataxia with vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
8. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
9. Early onset ataxia in Tunisia (intrafamilial heterogeneity)
10. Friedreich ataxia phenotype not linked to chromosome 9 and associated to selective autosomal recessive vitamin E deficiency in two inbred Tunisian families
11. Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Freidreich's taxia locus on chromosome 9q
12. Prevalence and pattern of spinocerebellar degeneration in northeastern Libya
13. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies
14. Early onset cerebellar ataxia with retained tendon reflexes
15. Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology and magnetic resonance imaging
16. Ataxia with vitamin E deficiency: Refinement of genetic localisation and analysis of linkage disequilibrium by using new markers in 14 families
17. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
18. Chromosomal asignement of the second locus for autosomal dominant cerebellar ataxia (SCA2) to human chromosome 12q23-24.1
19. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of the fourth
20. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localisation to chromosome 16q22.1
21. Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1
22. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
23. Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker