Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

Archives of Neurology

Volumn 60, Issue 7, 2003, Pages 982-988

  El Euch Fayache, Ghada ^a   Lalani, Irfan ^b   Amouri, Rim ^a   Turki, Ilhem ^a   Ouahchi, Karim ^b,c   Hung, Wu Yen ^b   Belal, Samir ^a   Siddique, Teepu ^b   Hentati, Fayçal ^a  

^a Institut National de Neurologie Tunisia   (Tunisia)

^b NORTHWESTERN UNIVERSITY   (United States)

^c NORTHWESTERN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SACSIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE ATAXIA OF CHARLEVOIX SAGUENAY; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; DISEASE SEVERITY; ELECTRONEUROLOGY; EVOKED SOMATOSENSORY RESPONSE; FAMILY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HEREDITARY ATAXIA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER DEGENERATION; ONSET AGE; PERIPHERAL NERVE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RATING SCALE; STEREOTYPY; TUNISIA;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; FEMALE; GENES, RECESSIVE; HEAT-SHOCK PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; NEURAL CONDUCTION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PERONEAL NERVE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPINOCEREBELLAR DEGENERATIONS; TUNISIA;

EID: 0038037554     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.7.982     Document Type: Article

References (16)

1. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci. 1978;5:61-69.
2. Bouchard JP, Richter A, Mathieu J, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromusc Dis. 1998;8:474-479.
3. Richter A, Rioux JD, Bouchard JP, et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet. 1999;64:768-775.
4. Engert JC, Bérubê P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000;24:120-125.
5. Mrissa N, Belal S, Ben Hamica C, et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology. 2000;54: 1408-1414.
6. Trouillas P, Takayanagi T, Hallett M, et al, for the Ataxia Neuropharmacology Committee of the World Federation of Neurology. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci. 1997;145:205-211.
7. Zouari M, Feki M, Ben Hamida C, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromusc Dis. 1998;8:416-425.
8. Richter A, Morgan K, Bouchard JP, et al. Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Adv Neurol. 1993;61:97-103.
9. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can J Neurol Sci. 1979;6:185-189.
10. DeLean J, Mathieu J, Bouchard JP. Central pathway conduction in recessive spastic ataxia of Charlevoix-Saguenay [abstract]. Can J Neurol Sci. 1989;16:272.
11. Peyronnard JM, Charron L, Barbeau A. The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci. 1979;6:199-203.
12. Ohtsuka K, Hata M. Molecular chaperone function of mammalian Hsp70 and Hsp40: a review. Int J Hyperthermia. 2000;16:231-245.
13. Ben Hamida M, Attia-Romdhane N, Triki CH, Oueslati S, Hentati F. Analyse clinique et génétique de 188 familles d'hérédo-dégénérescence spino-cérébelleuse: maladies de Friedreich et hérédo-ataxie de P. Marie. Rev Neurol (Paris). 1991;147:798-808.
14. Ben Hamida M, Madani S, Zmerli S, et al. Les hérédodégénérescences spinocérébelleuses en Tunisie, avec étude cystanométrique des troubles sphinctériens. Rev Neurol (Paris). 1980;136:495-508.
15. Ben Hamida M, Chaabouni H, Madani S, et al. Etude génétique des hérédodégénerescences spino-cérébelleuses en Tunisie: le rôle de la consanguinité dans leur survenue. J Genet Hum. 1986;34:267-274.
16. Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995; 9:141-145.