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Titolo:
CLINICAL CHARACTERISTICS OF A FAMILY WITH CHROMOSOME 17-LINKED DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
Autore:
LYNCH T; SANO M; MARDER KS; BELL KL; FOSTER NL; DEFENDINI RF; SIMA AAF; KEOHANE C; NYGAARD TG; FAHN S; MAYEUX R; ROWLAND LP; WILHELMSEN KC;
Indirizzi:
NEUROL INST,DEPT NEUROL,710 W 168TH ST NEW YORK NY 10032 NEUROL INST,DEPT NEUROL NEW YORK NY 10032 COLUMBIA PRESBYTERIAN MED CTR,DEPT NEUROPATHOL NEW YORK NY 10032 COLUMBIA PRESBYTERIAN MED CTR,DEPT PUBL HLTH NEW YORK NY 10032 COLUMBIA PRESBYTERIAN MED CTR,GERTRUDE SERGIEVSKY CTR NEW YORK NY 10032 COLUMBIA PRESBYTERIAN MED CTR,ALZHEIMERS DIS RES CTR NEW YORK NY 10032 UNIV MICHIGAN,MED CTR,DEPT NEUROL ANN ARBOR MI 48109 UNIV MICHIGAN,MED CTR,DEPT PATHOL & INTERNAL MED ANN ARBOR MI 48109 CORK REG HOSP,DEPT NEUROPATHOL CORK IRELAND
Titolo Testata:
Neurology
fascicolo: 10, volume: 44, anno: 1994,
pagine: 1878 - 1884
SICI:
0028-3878(1994)44:10<1878:CCOAFW>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOTOR-NEURON DISEASE; FRONTAL-LOBE DEGENERATION; ONSET ALZHEIMERS-DISEASE; KLUVER-BUCY SYNDROME; LATERAL-SCLEROSIS; SUPEROXIDE-DISMUTASE; PROGRESSIVE DEMENTIA; LINKAGE ANALYSIS; PICKS DISEASE; GENE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
110
Recensione:
Indirizzi per estratti:
Citazione:
T. Lynch et al., "CLINICAL CHARACTERISTICS OF A FAMILY WITH CHROMOSOME 17-LINKED DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX", Neurology, 44(10), 1994, pp. 1878-1884

Abstract

We studied the clinical features, pathology, and molecular genetics of a family (Mo) with an autosomal dominant disinhibition, frontal lobedementia, parkinsonism, and amyotrophy. We examined seven affected members and gathered clinical information on another six. The mean onsetwas at age 45 years. Personality and behavioral changes (disinhibition, withdrawal, alcoholism, hyperphagia) were the first symptoms in twelve. There was early memory loss, anemia, and poor construction with preservation until late of orientation, speech, and calculations. All affected members examined had rigidity, bradykinesia, and postural instability. Mean duration to death was 13 years. We studied the neuropathology of six individuals, five of whom had been examined in life. There was atrophy and spongiform change in the frontotemporal cortex, and neuronal loss and gliosis in the substantia nigra and amygdala. Two individuals, including one with fasciculations and muscle wasting, had anterior horn cell loss. There were no Lewy bodies, neurofibrillary tangles, or amyloid plaques. We call this disorder the ''disinhibition-dementia-parkinsonism-amyotrophy complex'' (DDPAC), based on the clinical syndrome found in this family and linkage to chromosome 17.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 03:30:25