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Titolo:
Hereditary recurrent focal neuropathies - Clinical and molecular features
Autore:
Stogbauer, F; Young, P; Kuhlenbaumer, G; De Jonghe, P; Timmerman, V;
Indirizzi:
Univ Munster, Neurol Klin & Poliklin, D-48129 Munster, Germany Univ Munster Munster Germany D-48129 Poliklin, D-48129 Munster, Germany Univ Antwerp, Flanders Interuniv Inst Biotechnol, Born Bunge Fdn, Dept Biochem, B-2020 Antwerp, Belgium Univ Antwerp Antwerp Belgium B-2020 ept Biochem, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium Univ Antwerp Hosp Antwerp Belgium rp Hosp, Div Neurol, Antwerp, Belgium
Titolo Testata:
NEUROLOGY
fascicolo: 3, volume: 54, anno: 2000,
pagine: 546 - 551
SICI:
0028-3878(20000208)54:3<546:HRFN-C>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
MARIE-TOOTH-DISEASE; PERIPHERAL MYELIN PROTEIN-22; BRACHIAL-PLEXUS NEUROPATHY; FRAME-SHIFT MUTATION; PRESSURE PALSIES; NEURALGIC AMYOTROPHY; CHROMOSOME 17Q; POINT MUTATION; MESSENGER-RNA; PMP22 GENE;
Keywords:
hereditary neuropathy with liability to pressure palsies; hereditary neuralgic amyotrophy; peripheral myelin protein-22; brachial neuritis;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
54
Recensione:
Indirizzi per estratti:
Indirizzo: Stogbauer, F Univ Munster, Neurol Klin & Poliklin, Albert Schweitzer Str 33, D-48129 Munster, Germany Univ Munster Albert Schweitzer Str 33 Munster Germany D-48129
Citazione:
F. Stogbauer et al., "Hereditary recurrent focal neuropathies - Clinical and molecular features", NEUROLOGY, 54(3), 2000, pp. 546-551

Abstract

The authors review the molecular genetics and pathophysiology of hereditary recurrent focal neuropathies: hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). Significantprogress in the understanding of HNPP and HNA has been achieved. HNPP and HNA are distinct clinical and pathologic disease entities with autosomal dominant inheritance. Molecular genetic studies have shown that HNPP and HNA are located on chromosome 17 but at distinct genetic loci (17p11.2 for HNPP, 17q25 for HNA). The 1.5 megabase deletion in 17p11.2 is the major cause of HNPP. This interstitial deletion causes the complete loss of one allele of the peripheral myelin protein 22 (PMP22) gene. Interestingly, rare HNPP patients are found without the 1.5 megabase deletion. However, these patients have distinct mutations in the PMP22 gene resulting in altered expressionof the PMP22 protein. Current molecular genetic tests and clinical guidelines allow improved diagnosis, prognosis, and genetic counseling for patients with HNPP. Such tests are not available for HNA, because the disease-causing gene remains unknown. Molecular genetic advances in HNPP and HNA, as well as the study of transgenic animal and cellular models, will provide a more precise understanding of the disease mechanisms and will lead to the development of effective therapeutic tools for patients with inherited and sporadic recurrent peripheral neuropathies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 02:19:14