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Titolo:
Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement
Autore:
Inoue, K; Tanaka, H; Scaglia, F; Araki, A; Shaffer, LG; Lupski, JR;
Indirizzi:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Dept Pediat, Houston, TX 77030 USA Asahikawa Habilitat Ctr Disabled Children, Dept Pediat, Asahikawa, Hokkaido, Japan Asahikawa Habilitat Ctr Disabled Children Asahikawa Hokkaido Japan Japan
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 6, volume: 50, anno: 2001,
pagine: 747 - 754
SICI:
0364-5134(200112)50:6<747:CFCNSD>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
PELIZAEUS-MERZBACHER-DISEASE; POINT MUTATIONS; INTERPHASE FISH; X-CHROMOSOME; SPINAL CORDS; MAJOR CAUSE; JIMPY GENE; MYELIN; FAMILY; INACTIVATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Lupski, JR Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med 1 Baylor Plaza,Room 604B Houston TX USA 77030 A
Citazione:
K. Inoue et al., "Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement", ANN NEUROL, 50(6), 2001, pp. 747-754

Abstract

A submicroscopic duplication that contains the entire proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease, an X-linked central nervous system dysmyelinating disorder. Previous studies have demonstrated that carrier females for the duplication are usually asymptomatic. We describe 2 unrelated female patients who present with mild Pelizaeus-Merzbacher disease or spastic paraplegia. In 1 patient, clinical features as well ascranial magnetic resonance imaging and brainstem auditory evoked potentialresults have improved dramatically over a 10-year period. The other patient, who presented with spastic diplegia and was initially diagnosed with cerebral palsy, has also shown clinical improvement. Interphase fluorescent insitu hybridization identified a proteolipid protein gene duplication in both patients. Interphase fluorescent in situ hybridization analyses of the family members indicated that the duplication in both patients occurred as de novo events. Neither skewing of X inactivation in the peripheral lymphocytes nor proteolipid protein gene coding alterations were identified in either patient. These findings indicate that, occasionally, females with a proteolipid protein gene duplication can manifest an early-onset neurological phenotype. We hypothesize that the remarkable clinical improvement is a result of myelin compensation by oligodendrocytes expressing one copy of proteolipid protein gene secondary to selection for a favorable X inactivation pattern. These findings indicate plasticity of oligodendrocytes in the formation of central nervous system myelin and suggest a potential role for stem cell transplantation therapies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 13:06:41