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Titolo:
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases
Autore:
Plante-Bordeneuve, V; Parman, Y; Guiochon-Mantel, A; Alj, Y; Deymeer, F; Serdaroglu, P; Eraksoy, M; Said, G;
Indirizzi:
Univ Paris 11, CHU Bicetre, Assistance Publ Hop Paris, Dept Mol Biol, Paris, France Univ Paris 11 Paris France Publ Hop Paris, Dept Mol Biol, Paris, France Istanbul Fac Med, Dept Neurol, Istanbul, Turkey Istanbul Fac Med Istanbul Turkey Fac Med, Dept Neurol, Istanbul, Turkey
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 9, volume: 248, anno: 2001,
pagine: 795 - 803
SICI:
0340-5354(200109)248:9<795:TROCDN>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
MARIE-TOOTH-DISEASE; FOCALLY FOLDED MYELIN; DEJERINE-SOTTAS-DISEASE; RECESSIVE HEREDITARY MOTOR; SENSORY NEUROPATHY; POINT MUTATION; PMP22 GENE; CONGENITAL HYPOMYELINATION; CHARCOT; SHEATHS;
Keywords:
Dejerine-Sottas disease; PMP22 P-0; Egr2; demyelinating polyneuropathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Plante-Bordeneuve, V CHU Bicetre, Serv Neurol, F-94275 Le Kremlin Bicetre,France CHU Bicetre Le Kremlin Bicetre France F-94275 rance
Citazione:
V. Plante-Bordeneuve et al., "The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases", J NEUROL, 248(9), 2001, pp. 795-803

Abstract

The concept of Dejerine-Sottas disease, which corresponds to presumed recessive demyelinating neuropathies with onset in infancy, remains controversial. To learn more on the subject, we performed a clinico-pathological and molecular genetic study in 15 unrelated patients with the Dejerine-Sottas phenotype seen over a 16 year period. There were 12 females and 3 males, bornto asymptomatic parents. Study of the PMP22, P-0 and Egr2 genes was performed in all cases and 14 underwent a nerve biopsy. First manifestations of neuropathy occurred before 3 years of age in all patients. An inherited disorder was suspected in 10 patients, because of their family history and/or disclosure of a molecular genetic defect in 4 of them. One patient had a recessively transmitted homozygous point mutation (Arg157Trp) of the PMP22 gene. A heterozygous duplication of the 17p11.2-12 segment was detected in oneoffspring of a consanguineous marriage. One patient carried a "de novo" heterozygous Ser72Leu substitution in the PMP22. A heterozygous double mutation of the Po gene including a "de novo"Val42 deletion and an Ala221 Thr substitution, maternally inherited, were found in an apparently sporadic case. No mutation of the Egr2 gene was identified. A neuropathy with focally folded myelin sheaths (CMT4B) was diagnosed in the nerve biopsy specimens of two patients. In five patients, the clinico-pathological findings along withthe absence of an identified mutation suggested the diagnosis of chronic inflammatory demyelinating polyneuropathy of infantile onset. Our findings illustrate the genetic heterogeneity of cases with identified mutations, thescarcity of cases with "demonstrated" recessive transmission and the likelihood of early acquired chronic inflammatory demyelinating polyneuropathy in several patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 18:08:39