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Titolo:
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
Autore:
Di Donato, S; Gellera, C; Mariotti, C;
Indirizzi:
C Besta Natl Neurol Inst, Div Biochem & Genet, I-20133 Milan, Italy C Besta Natl Neurol Inst Milan Italy I-20133 Genet, I-20133 Milan, Italy
Titolo Testata:
NEUROLOGICAL SCIENCES
fascicolo: 3, volume: 22, anno: 2001,
pagine: 219 - 228
SICI:
1590-1874(200106)22:3<219:TCCAGC>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
VITAMIN-E-DEFICIENCY; TOCOPHEROL TRANSFER PROTEIN; PHYTANOYL-COA HYDROXYLASE; TRIPLET REPEAT EXPANSION; OCULAR MOTOR APRAXIA; FRIEDREICH-ATAXIA; REFSUMS-DISEASE; PHENOTYPIC VARIABILITY; TELANGIECTASIA GENE; IRON ACCUMULATION;
Keywords:
autosomal recessive cerebellar ataxia spinocerebellar ataxia; Friedreich's ataxia; ataxia telangiectasia; ataxia with oculomotor apraxia; vitamin E deficiency; abetalipoproteinemia; Refsum's disease;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
52
Recensione:
Indirizzi per estratti:
Indirizzo: Di Donato, S C Besta Natl Neurol Inst, Div Biochem & Genet, Via Celoria 11, I-20133 Milan, Italy C Besta Natl Neurol Inst Via Celoria 11 Milan ItalyI-20133
Citazione:
S. Di Donato et al., "The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias", NEUROL SCI, 22(3), 2001, pp. 219-228

Abstract

Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset cerebellar ataxia associated with various neurologic, ophthalmologic and systemic signs. In comparison with autosomal dominant ataxias, the group of recessive ataxias is less extensively characterized. In fact, only a few conditions have been genetically characterized. The pathogenesis of these forms is associated with a "loss offunction" of specific cellular proteins involved in metabolic homeostasis,cell cycle, and DNA repair/protection processing. The two most common autosomal recessive ataxias, in European countries, are Friedreich's ataxia andataxia telangiectasia. Other forms are much less frequent, and include ataxia with vitamin E deficiency, abetalipoproteinemia, Refsum's disease, spastic ataxia, infantile onset spinocerebellar ataxia, and ataxia with oculomotor apraxia. These pathological conditions, although extremely rare, have nevertheless to be carefully considered in differential diagnosis, not only for correct nosographical. classification, but particularly, for specific prognostic and therapeutic implications. Some of these diseases exhibit a peculiar regional distribution. An updated review of the clinical, genetic, and pathogenic aspects of recessive ataxias is presented. Specific management problems with respect to diagnosis and genetic counseling are discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 16:39:13