Muñoz E, Tolosa E, Pastor P, Martí M J, Valldeoriola F, Campdelacreu J, Oliva R
Movemente Disorder Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Villarroel 170, 08036 Barcelona, Spain.
J Neurol Neurosurg Psychiatry. 2002 Nov;73(5):582-4. doi: 10.1136/jnnp.73.5.582.
Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene.
To search for the presence of parkin gene mutations in Spanish patients with Parkinson's disease (PD) and characterise the phenotype associated with these mutations.
Thirty seven PD patients with either early onset or autosomal recessive pattern of inheritance were selected for genetic study.
Mutations were identified in seven index patients (19%). Homozygous mutations were detected in six patients and a heterozygous mutation in one. The age at onset was lower in patients with mutations than in patients without mutations. Dystonia at onset was present in two patients with parkin gene mutations. The disease began in two patients with postural tremor in the upper limbs mimicking essential tremor. Four patients exhibited a long term response to dopamine agonists. The c.255delA mutation was identified in four unrelated families. This is a frameshift mutation leading to protein truncation.
Parkin gene mutations are present in Spanish patients with early onset and/or an autosomal recessive parkinsonism. The c.255delA is the most frequent mutation found, suggesting a relative high prevalence in the Spanish population.
常染色体隐性少年帕金森病是一种与帕金森基因（parkin）突变相关的神经退行性疾病。
在西班牙帕金森病（PD）患者中寻找帕金森基因（parkin）突变的存在，并对与这些突变相关的表型进行特征描述。
选择37例具有早发或常染色体隐性遗传模式的PD患者进行遗传学研究。
在7例索引患者（19%）中鉴定出突变。6例患者检测到纯合突变，1例患者检测到杂合突变。有突变的患者发病年龄低于无突变的患者。2例有帕金森基因突变的患者起病时出现肌张力障碍。2例患者疾病开始时上肢姿势性震颤类似特发性震颤。4例患者对多巴胺激动剂有长期反应。在4个无关家族中鉴定出c.255delA突变。这是一种导致蛋白质截短的移码突变。
西班牙早发和/或常染色体隐性帕金森病患者中存在帕金森基因（parkin）突变。c.255delA是最常见的突变，提示在西班牙人群中相对高发。
