A novel variation in the Twinkle linker region causing late-onset dementia [0.03%]
TWNK链接区变异导致的年轻发病额颞叶痴呆病例报告
Andoni Echaniz-Laguna,Jean-Baptiste Chanson,Jean-Marie Wilhelm et al.
Andoni Echaniz-Laguna et al.
Variations in the mitochondrial helicase Twinkle (PEO1) gene are usually associated with autosomal dominant chronic progressive external ophthalmoplegia (PEO). We describe five patients from two unrelated Alsatian families with the new R374...
Hervé Crehalet,Philippe Latour,Véronique Bonnet et al.
Hervé Crehalet et al.
We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Charcot-Marie-Tooth disease type 1B (CMT1B), an autosomal dominant inherited disorder caused by mutations i...
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder [0.03%]
CDKL5基因中特异性短致重复序列介导缺失导致女性早发性癫痫综合征
Ayelet Erez,Amina J Patel,Xueqing Wang et al.
Ayelet Erez et al.
Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Xp22.13 have been associated with infantile spasms, early-onset intractable epilepsy, and a Rett syndrome (RTT)-like phenotype. Using array comparative genomic hybridization, w...
Case Reports
Neurogenetics. 2009 Oct;10(4):363-9. DOI:10.1007/s10048-009-0195-z 2009
SCA27 caused by a chromosome translocation: further delineation of the phenotype [0.03%]
由染色体易位引起的SCA27：进一步阐明其表型
D Misceo,M Fannemel,T Barøy et al.
D Misceo et al.
We report of a spinocerebellar ataxia (SCA)27 in a daughter and her mother whose karyotype is 46, XX t(5;13)(q31.2;q33.1). The translocation breakpoint is identical in both patients, disrupting the gene-encoding fibroblast growth factor 14 ...
Case Reports
Neurogenetics. 2009 Oct;10(4):371-4. DOI:10.1007/s10048-009-0197-x 2009
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia [0.03%]
线粒体ND3作为Leber遗传性视神经病变和肌张力不全的新致病基因
Kang Wang,Yuji Takahashi,Zong-Liang Gao et al.
Kang Wang et al.
Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutat...
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease [0.03%]
LRRK2和GBA突变对帕金森病初始症状的影响不同
Z Gan-Or,A Bar-Shira,A Mirelman et al.
Z Gan-Or et al.
GBA and LRRK2 mutations increase susceptibility to Parkinson disease (PD), which is characterized by various disabling symptoms. An extended cohort of 600 Ashkenazi PD patients was screened for the LRRK2 G2019S and for eight GBA mutations. ...
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management [0.03%]
遗传性脊髓小脑共济失调的临床、基因型及影像学特征：对临床管理的启示——中国南方小脑退行性疾病的基因筛查及临床表型研究
M Anheim,M Fleury,B Monga et al.
M Anheim et al.
While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other forms of ARCA has been obtained only recently, and they appe...
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1 [0.03%]
常染色体隐性遗传的双下肢痉挛性截瘫伴精神发育迟滞定位在10q24.3-q25.1(SPG45)
Umut Dursun,Cigdem Koroglu,Elif Kocasoy Orhan et al.
Umut Dursun et al.
Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity in the lower limbs. They are clinically heterogeneous, and pure forms as well as complicated forms with other accompanying clinical findings are known. HSPs a...
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? [0.03%]
与BSCL2遗传性运动神经元病相关的新型16p位点：一个遗传修饰因子？
Esther Brusse,Danielle Majoor-Krakauer,Bianca M de Graaf et al.
Esther Brusse et al.
We describe the neurological, electrophysiological, and genetic features of autosomal dominant distal hereditary motor neuronopathy (HMN) in a three-generation Dutch family, including 12 patients with distal muscle weakness and atrophy. The...
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation [0.03%]
由ARFGEF2基因突变导致的运动障碍和神经元迁移障碍
M C Y de Wit,I F M de Coo,D J J Halley et al.
M C Y de Wit et al.
We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_380...