Balint Bettina, Damasio Joana, Magrinelli Francesca, Guerreiro Rita, Bras Jose, Bhatia Kailash P
Department of Clinical and Movement Neurosciences Queen Square London United Kingdom.
Department of Neurology University Hospital Heidelberg Germany.
Mov Disord Clin Pract. 2020 Sep 4;7(7):838-841. doi: 10.1002/mdc3.13034. eCollection 2020 Oct.
Biallelic mutations in were identified as the cause of Kufor-Rakeb disease, a pallido-pyramidal syndrome characterized by young-onset dystonia-parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioral manifestations have not been highlighted.
Here we report the clinical, radiological, and genetic findings in 2 unrelated patients with mutations. One patient had a prominent behavioral (autistic spectrum) presentation and the other a psychiatric (paranoid psychosis) presentation. Both had additional features, such as delayed milestones, ataxia, pyramidal signs, upgaze restriction, or impaired cognition to varying extent, but these were partly subtle or developed later in the disease course.
Prominent behavioral or psychiatric features can be the first or most prominent manifestation of -related disease. They may be a diagnostic clue in patients with ataxia, spasticity, or parkinsonism and may require an interdisciplinary neurological and psychiatric treatment approach.
已确定[基因名称]的双等位基因突变是库福尔-拉凯布病的病因，该病是一种苍白球-锥体综合征，其特征为早发性肌张力障碍-帕金森综合征伴垂直性核上性凝视麻痹、痉挛和认知功能减退。自那以后，其表型谱有所拓宽，但主要的精神或行为表现尚未得到突出强调。
在此，我们报告了2例携带[基因名称]突变的不相关患者的临床、影像学和遗传学发现。1例患者有明显的行为（自闭症谱系）表现，另1例有精神（偏执性精神病）表现。两者都有其他特征，如发育迟缓、共济失调、锥体束征、上视受限或不同程度的认知障碍，但这些部分表现较为隐匿或在疾病过程中较晚出现。
突出的行为或精神特征可能是[基因名称]相关疾病的首发或最突出表现。它们可能是共济失调、痉挛或帕金森综合征患者的诊断线索，可能需要跨学科的神经和精神治疗方法。
