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Titolo:
Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation
Autore:
Spira, PJ; Sharpe, DM; Halliday, G; Cavanagh, J; Nicholson, GA;
Indirizzi:
Univ Sydney, Concord Hosp, Mol Med Lab, Dept Mol Med, Concord, NSW 2139, Australia Univ Sydney Concord NSW Australia 2139 Med, Concord, NSW 2139, Australia Prince Wales Hosp, Inst Neurosci, Randwick, NSW 2031, Australia Prince Wales Hosp Randwick NSW Australia 2031 ndwick, NSW 2031, Australia Prince Wales Med Res Inst, Randwick, NSW 2031, Australia Prince Wales Med Res Inst Randwick NSW Australia 2031 NSW 2031, Australia Concord Hosp, Dept Neurol, Concord, NSW, Australia Concord Hosp Concord NSW Australia Dept Neurol, Concord, NSW, Australia
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 3, volume: 49, anno: 2001,
pagine: 313 - 319
SICI:
0364-5134(200103)49:3<313:CAPFOA>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
LEWY-BODY-DISEASE; NEURODEGENERATIVE DISORDERS; HEREDITARY PARKINSONISM; GENETIC-ANALYSIS; DEMENTIA; NEUROPATHOLOGY; DEPRESSION; INCLUSIONS; MYOCLONUS; TAU;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Nicholson, GA Univ Sydney, Concord Hosp, Mol Med Lab, Dept Mol Med, Clin Sci Bldg, Concord, NSW 2139, Australia Univ Sydney Clin Sci Bldg Concord NSWAustralia 2139 stralia
Citazione:
P.J. Spira et al., "Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation", ANN NEUROL, 49(3), 2001, pp. 313-319

Abstract

We describe an Australian family of Greek origin with a parkinsonian syndrome and an Ala53Thr alpha -synuclein gene mutation. Five of 9 siblings wereaffected, the average age of onset was 45 years, and the initial symptoms were variable, including resting tremor, bradykinesia, and gait disturbance, as previously described in families with the same point mutation. Affected family members responded well to levodopa, developed progressive cognitive impairment, and had a disease duration of 5 to 16 years. Pathologic features typical of idiopathic Parkinson's disease were found at autopsy. However, there were several additional features not previously reported in families with this gene mutation. These features included severe central hypoventilation, orthostatic hypotension, prominent myoclonus, and urinary incontinence. An abundance of alpha -synuclein-immunoreactive Lewy neurites were found in the brainstem pigmented nuclei, hippocampus, and temporal neocortex. The Lewy neurites were associated with temporal lobe vacuolation. Subcortical basal ganglia cell loss and gliosis were seen. These additional clinical and pathological features suggest that the Ala53Thr alpha -synuclein mutation can produce a more widespread disorder than found in typical idiopathic Parkinson's disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:12:57