Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Genetics of sporadic ALS
Autore:
Andersen, PM;
Indirizzi:
Umea Univ Hosp, Dept Neurol, S-90185 Umea, Sweden Umea Univ Hosp Umea Sweden S-90185 sp, Dept Neurol, S-90185 Umea, Sweden
Titolo Testata:
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
, volume: 2, anno: 2001, supplemento:, 1
pagine: S37 - S41
SICI:
1466-0822(200103)2:<S37:GOSA>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYOTROPHIC-LATERAL-SCLEROSIS; MOTOR-NEURON-DISEASE; CUZN-SUPEROXIDE-DISMUTASE; APOLIPOPROTEIN-E EPSILON-4; LONGITUDINAL GOMPERTZIAN ANALYSIS; HEAVY NEUROFILAMENT SUBUNIT; SOD1 MUTATION; MORTALITY; PATIENT; ONSET;
Keywords:
ALS; CuZn-SOD; recessive inheritance; reduced disease penetrance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
63
Recensione:
Indirizzi per estratti:
Indirizzo: Andersen, PM Umea Univ Hosp, Dept Neurol, S-90185 Umea, Sweden Umea Univ Hosp Umea Sweden S-90185 ol, S-90185 Umea, Sweden
Citazione:
P.M. Andersen, "Genetics of sporadic ALS", AMYOTROPH L, 2, 2001, pp. S37-S41

Abstract

The only known gene to be involved in ALS is the CuZn-superoxide dismutase(CuZn-SOD) gene. Since 1993, 89* disease-associated mutations have been found in this gene, 14 of them in cases with apparently sporadic ALS. Most frequent are the D90A (most often with recessive inheritance, but a few with dominant inheritance) and the I113T (dominant inheritance with variable penetrance). Statistical and genealogical evidence suggest that quite a numberof diagnosed sporadic cases may in fact be familial cases in pedigrees with very low disease penetrance.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 14:36:59