Kang Wang,Karen N McFarland,Jilin Liu et al.
Kang Wang et al.
Spinocerebellar ataxia type 10 (SCA10; OMIM #603516) is an autosomal dominant cerebellar ataxia with variably associated extracerebellar signs.(1,2) SCA10 is caused by an expanded noncoding pentanucleotide repeat in ATXN10, which normally r...
Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11 [0.03%]
土耳其青少年运动神经元病家系扩大SPG11型临床表型谱系
Ceren Iskender,Ece Kartal,Fulya Akcimen et al.
Ceren Iskender et al.
Objective: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessiv...
Dyslexia susceptibility genes influence brain atrophy in frontotemporal dementia [0.03%]
阅读障碍易感基因影响额颞叶痴呆患者的脑萎缩路径
Donata Paternicó,Enrico Premi,Antonella Alberici et al.
Donata Paternicó et al.
Objective: In this study, we evaluated whether variations within genes specifically associated with dyslexia, namely KIAA0319, DCDC2, and CNTNAP2, were associated with greater damage of language-related regions in patient...
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation [0.03%]
由多系统蛋白病相关hnRNPA1突变引起的孤立性包涵体肌病
Rumiko Izumi,Hitoshi Warita,Tetsuya Niihori et al.
Rumiko Izumi et al.
Objective: To identify the genetic cause of isolated inclusion body myopathy (IBM) with autosomal dominant inheritance in 2 families. Methods: ...
Alzheimer risk genes modulate the relationship between plasma apoE and cortical PiB binding [0.03%]
载脂蛋白ε基因型通过AD风险基因调控血浆APOE与皮质PBI结合的关系
Andreas Lazaris,Kristy S Hwang,Naira Goukasian et al.
Andreas Lazaris et al.
Objective: We investigated the association between apoE protein plasma levels and brain amyloidosis and the effect of the top 10 Alzheimer disease (AD) risk genes on this association. ...
Marina Fanin,Annalaura Torella,Marco Savarese et al.
Marina Fanin et al.
Defects in enzymes involved in glycogen metabolism result in glycogen storage diseases (GSDs), which may affect the skeletal and sometimes also the cardiac muscle. The most frequent abnormality causing GSDs is glycogen storage, whereas othe...
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance [0.03%]
DYNC1H1的新突变致以下肢为主的脊髓性肌肉萎缩症
Qi Niu,Xingxia Wang,Mingchao Shi et al.
Qi Niu et al.
Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot-Ma...
Posterior reversible encephalopathy syndrome is not associated with mutations in aquaporin-4 [0.03%]
后可逆性脑病综合征不与水通道蛋白-4基因突变相关
Marcelo Matiello,Rajanandini Muralidharan,David Sun et al.
Marcelo Matiello et al.
Posterior reversible encephalopathy syndrome (PRES) is characterized by acute reversible subcortical vasogenic edema that is typically bilateral and self-limiting. It preferentially affects posterior regions of the brain. Clinical manifesta...
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker [0.03%]
转甲状腺素蛋白家族性淀粉样神经病的舌萎缩和纤维颤动：一种假性ALS病症
Namita A Goyal,Tahseen Mozaffar
Namita A Goyal
Objective: Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS). ...
Gemma L Carvill,Douglas E Crompton,Brigid M Regan et al.
Gemma L Carvill et al.
Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. Methods: We performed DEPDC5 reseq...