Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred [0.03%]
家族性偏瘫型偏头痛的遗传连锁定位至西班牙一家系的染色体14q32区域
Ester Cuenca-León,Roser Corominas,Magda Montfort et al.
Ester Cuenca-León et al.
We sought to map the disease-causing gene in a large Spanish kindred with familial hemiplegic migraine (FHM). Patients were classified according to the ICHD-II criteria. After ruling out linkage to known migraine genetic loci, a single nucl...
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated [0.03%]
系统性比较遗传感觉神经病1型（HSAN I）中的所有突变发现G387A突变并不与疾病相关
Thorsten Hornemann,Anke Penno,Stephane Richard et al.
Thorsten Hornemann et al.
Hereditary sensory neuropathy type 1 (HSAN I) is an autosomal dominant inherited neurodegenerative disorder of the peripheral nervous system associated with mutations in the SPTLC1 subunit of the serine palmitoyltransferase (SPT). Four miss...
Familial risks for amyotrophic lateral sclerosis and autoimmune diseases [0.03%]
家族性肌萎缩侧索硬化症和自身免疫疾病的发病风险关系研究
Kari Hemminki,Xinjun Li,Jan Sundquist et al.
Kari Hemminki et al.
Population-level familial risks are not available for amyotrophic lateral sclerosis (ALS), and a few studies have analyzed familial association of ALS with other diseases. We used the Swedish Multigeneration Register to identify family memb...
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis [0.03%]
感觉和汗腺缺乏的先天性免疫力缺陷导致的体液免疫功能低下
Sara Sebnem Kilic,Rifatcan Ozturk,Bartu Sarisozen et al.
Sara Sebnem Kilic et al.
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the cl...
Case Reports
Neurogenetics. 2009 Apr;10(2):161-5. DOI:10.1007/s10048-008-0165-x 2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) [0.03%]
GDAP1相关性常染色体显性遗传的Charcot-Marie-Tooth病(CMT2K)的线粒体复合物I缺陷
Julien Cassereau,Arnaud Chevrollier,Naïg Gueguen et al.
Julien Cassereau et al.
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a n...
Brenda Wong,Donald L Gilbert,Wynn L Walker et al.
Brenda Wong et al.
The objective of this study was to examine RNA expression in blood of subjects with Duchenne muscular dystrophy (DMD). Whole blood was collected into PAX gene tubes and RNA was isolated for 3- to 20-year-old males with DMD (n = 34) and for ...
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform [0.03%]
首个导致雷特综合征错义突变仅影响MeCP2_e1亚型
Yann Fichou,Juliette Nectoux,Nadia Bahi-Buisson et al.
Yann Fichou et al.
We report the identification of the first de novo mutation at a highly conserved residue within the polyalanine stretch in the N-terminal region of the brain-dominant protein isoform MeCP2_e1 in a girl with classical Rett syndrome. The miss...
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) [0.03%]
新型谱系和突变扩展了REEP1相关遗传性痉挛性截瘫（HSP）的表型
Channa Hewamadduma,Christopher McDermott,Janine Kirby et al.
Channa Hewamadduma et al.
The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been report...
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss [0.03%]
与痉挛性共济失调和听力损失相关的SACS基因大片段结构变异
Alessandra Terracciano,Carlo Casali,Gaetano S Grieco et al.
Alessandra Terracciano et al.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy, with or without mental retardation. The array of mutations in SACS has expande...
LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity [0.03%]
与帕金森病相关的LRRK2 G2019S和R1441G突变在巴斯克地区很常见，但具体分布受种族影响
A Gorostidi,J Ruiz-Martínez,A Lopez de Munain et al.
A Gorostidi et al.
Mutations in LRRK2 gene are the most frequent cause of Parkinson's disease (PD) described, but their prevalence varies between populations. Patients, 418, with PD and 138 unrelated controls from the Basque Country were screened for LRRK2 G2...