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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:
Columbia Presbyterian Med Ctr, Inst Neurol, Dept Neurol, New York, NY 10032 USA Columbia Presbyterian Med Ctr New York NY USA 10032 ew York, NY 10032 USA Columbia Presbyterian Med Ctr, Dept Neuropathol, New York, NY 10032 USA Columbia Presbyterian Med Ctr New York NY USA 10032 ew York, NY 10032 USA Columbia Presbyterian Med Ctr, Dept Psychiat, New York, NY 10032 USA Columbia Presbyterian Med Ctr New York NY USA 10032 ew York, NY 10032 USA Columbia Presbyterian Med Ctr, Dept Publ Hlth, New York, NY 10032 USA Columbia Presbyterian Med Ctr New York NY USA 10032 ew York, NY 10032 USA Columbia Presbyterian Med Ctr, Gertrude H Sergievsky Ctr, New York, NY 10032 USA Columbia Presbyterian Med Ctr New York NY USA 10032 ew York, NY 10032 USA Columbia Presbyterian Med Ctr, Alzheimers Dis Res Ctr, New York, NY 10032 USA Columbia Presbyterian Med Ctr New York NY USA 10032 ew York, NY 10032 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI USA Univ Michigan Ann Arbor MI USA , Med Ctr, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Med Ctr, Dept Pathol, Ann Arbor, MI USA Univ Michigan Ann Arbor MI USA , Med Ctr, Dept Pathol, Ann Arbor, MI USA Univ Michigan, Med Ctr, Dept Internal Med, Ann Arbor, MI USA Univ Michigan Ann Arbor MI USA Ctr, Dept Internal Med, Ann Arbor, MI USA Cork Reg Hosp, Dept Neuropathol, Cork, Ireland Cork Reg Hosp Cork Ireland rk Reg Hosp, Dept Neuropathol, Cork, Ireland
Titolo Testata:
NEUROLOGY
fascicolo: 10, volume: 57, anno: 2001, supplemento:, 3
pagine: S39 - S45
SICI:
0028-3878(200111)57:10<S39:CCOAFW>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOTOR-NEURON DISEASE; FRONTAL-LOBE DEGENERATION; ONSET ALZHEIMERS-DISEASE; KLUVER-BUCY SYNDROME; LATERAL-SCLEROSIS; PICKS-DISEASE; SUPEROXIDE-DISMUTASE; PROGRESSIVE DEMENTIA; LINKAGE ANALYSIS; GENE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
110
Recensione:
Indirizzi per estratti:
Indirizzo: Wilhelmsen, KC Columbia Presbyterian Med Ctr, Inst Neurol, Dept Neurol, 710 W 168th St, New York, NY 10032 USA Columbia Presbyterian Med Ctr 710 W 168th St New York NY USA 10032
Citazione:
T. Lynch et al., "Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex", NEUROLOGY, 57(10), 2001, pp. S39-S45

Abstract

We studied the clinical features, pathology, and molecular genetics of a family (Mo) with an autosomal dominant disinhibition, frontal lobe dementia,parkinsonism, and amyotrophy. We examined seven affected members and gathered clinical information on another six. The mean onset was at age 45 years. Personality and behavioral changes (disinhibition, withdrawal, alcoholism, hyperphagia) were the first symptoms in twelve. There was early memory loss, anomia, 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.

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Documento generato il 09/07/20 alle ore 17:06:28