Neuropsychiatric and cognitive features in autosomal-recessive early Parkinsonism due to PINK1 mutations

被引:54
作者
Ephraty, Lilach
Porat, Omer
Israeli, David
Cohen, Oren S.
Tunkel, Olga
Yael, Shinar
Hatano, Yasaku
Hattori, Nobutaka
Hassin-Baer, Sharon [1 ]
机构
[1] Tel Aviv Univ, Sagol Neurosci Ctr, Dept Neurol, Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
[2] Tel Aviv Univ, Sagol Neurosci Ctr, Parkinsons Dis & Movement Disorders Clin, Chaim Sheba Med Ctr, IL-52621 Tel Hashomer, Israel
[3] Tel Aviv Univ, Chaim Sheba Med Ctr, Dept Psychiat, IL-69978 Tel Aviv, Israel
[4] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan
关键词
Parkinsonism; PINK1; hereditary; cognitive; neuropsychiatry;
D O I
10.1002/mds.21319
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Autosomal-recessive early-onset Parkinsonism (AREP) due to PINK1 mutations is characterized by an early-onset, slowly progressive disease, with a good response to levodopa. Psychiatric and cognitive disturbances associated with AREP have rarely been reported in the literature. We describe 2 brothers from a Jewish-Iraqi consanguineous family with a homozygous PINK] nonsense mutation. Both patients presented with anxiety and dysphoria accompanied by a gait disturbance that developed subsequently into a clinical depression. During the course of the disease, both developed drug-induced behavioral disturbances of the hedonistic homeostatic dysregulation type and 1 had drug-induced psychosis. The first patient had been diagnosed with mild mental retardation and during the 22 years of disease had further deteriorated; the second developed frontal-type dementia at an early age, 20 years after onset. Their father had a psychiatric disorder but no Parkinsonism. This report expands the phenotypic profile of PINK1-related disease, presenting unique psychiatric and cognitive features as part of the clinical picture. (c) 2007 Movement Disorder Society.
引用
收藏
页码:566 / 569
页数:4
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