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Titolo:
Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy
Autore:
Martinello, F; Piazza, A; Pastorello, E; Angelini, C; Trevisan, CP;
Indirizzi:
Univ Padua, Neurol Clin 2, I-35100 Padua, Italy Univ Padua Padua Italy I-35100 adua, Neurol Clin 2, I-35100 Padua, Italy Univ Padua, Dept Neurol & Psychiat Sci, I-35100 Padua, Italy Univ Padua Padua Italy I-35100 urol & Psychiat Sci, I-35100 Padua, Italy
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 3, volume: 246, anno: 1999,
pagine: 186 - 192
SICI:
0340-5354(199903)246:3<186:CANSOC>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN-KINASE; INTELLECTUAL IMPAIRMENT; SARCOPLASMIC-RETICULUM; MUSCULAR-DYSTROPHY; BRAIN INVOLVEMENT; SKELETAL-MUSCLE; TRIPLET REPEAT; CTG REPEAT; FOLLOW-UP; EXPANSION;
Keywords:
congenital myotonic dystrophy; mental retardation; brain MRI; DNA analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Trevisan, CP Univ Padua, Neurol Clin 2, Via Vendramini 7, I-35100 Padua, Italy Univ Padua Via Vendramini 7 Padua Italy I-35100 Padua, Italy
Citazione:
F. Martinello et al., "Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy", J NEUROL, 246(3), 1999, pp. 186-192

Abstract

We present the clinical and neuroimaging findings of five patients (four males, one female; mean age 12 years) affected by congenital myotonic dystrophy and the correlation with their molecular genetic analysis. At birth allfive presented severe muscular weakness and hypotonia, associated with feeding difficulties and respiratory distress. In the same patients, congenital clubfoot or more generalized arthrogryposis was also evident. Lymphocyte DNA was characterized in each by a CTG repeat longer than 1300 in the region of the myotonic dystrophy gene in chromosome 19. The patients' neurological condition was evaluated by clinical examination, intelligence tests, electroencephalography, and brain magnetic resonance imaging. All five suffered from some impairment of intellectual function (IQ ranged from 52 to 79). In three a longitudinal evaluation of the cognitive deficit detected no deterioration. In all patients magnetic resonance imaging showed some degree of ventricular dilatation, loosely correlated to the cognitive impairment; in three there was hypoplasia of the corpus callosum and in two mild abnormalities of supratentorial white matter. The relationship between the size ofthe CTG repeat expansion found in lymphocyte DNA and the cerebral abnormalities appeared inconsistent in this unusual myoencephalopathy of the newborn.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 05:07:02