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Titolo:
Clinical implications of the genetics of ALS and other motor neuron diseases
Autore:
Orrell, RW; Figlewicz, DA;
Indirizzi:
Univ Coll London, Sch Med, Dept Clin Neurosci, Royal Free & Univ Coll, London NW3 2PG, England Univ Coll London London England NW3 2PG iv Coll, London NW3 2PG, England Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester Rochester NY USA 14642 ept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurobiol & Anat, Rochester, NY 14642 USA Univ Rochester Rochester NY USA 14642 iol & Anat, Rochester, NY 14642 USA
Titolo Testata:
NEUROLOGY
fascicolo: 1, volume: 57, anno: 2001,
pagine: 9 - 17
SICI:
0028-3878(20010710)57:1<9:CIOTGO>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYOTROPHIC-LATERAL-SCLEROSIS; SPINAL MUSCULAR-ATROPHY; CU/ZN-SUPEROXIDE-DISMUTASE; TRANSGENIC MOUSE MODEL; HEAVY NEUROFILAMENT SUBUNIT; ANDROGEN RECEPTOR GENE; SPASTIC PARAPLEGIA; GLUTAMATE TRANSPORTER; PARKINSONISM-DEMENTIA; MESSENGER-RNA;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
81
Recensione:
Indirizzi per estratti:
Indirizzo: Orrell, RW Univ Coll London, Sch Med, Dept Clin Neurosci, Royal Free & Univ Coll, London NW3 2PG, England Univ Coll London London England NW3 2PG ndon NW3 2PG, England
Citazione:
R.W. Orrell e D.A. Figlewicz, "Clinical implications of the genetics of ALS and other motor neuron diseases", NEUROLOGY, 57(1), 2001, pp. 9-17

Abstract

Genetic mutations have been identified in the major motor neuron diseases,including AZ,S, spinal muscular atrophy, bulbospinal muscular atrophy (Kennedy's disease), the hereditary spastic paraplegias, and rarer conditions such as GM2 gangliosidosis (hexosaminidase A deficiency). These include mutations in the SOD1 gene, deletions of the telomeric copy of the SMN gene, expansions of the trinucleotide repeat region in the first exon of the androgen receptor gene, other rare mutations, and diseases where linkage has beenestablished but the gene not identified. Identification of one of these genetic abnormalities will allow specific diagnosis in patients. Because cureis not yet available, presymptomatic testing is seldom indicated; in such cases, careful counseling is appropriate.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 15:04:16