C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China.

GGGGCC repeat expansions in the C9orf72 gene have been identified as a major contributing factor in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the overlapping of clinical phenotypes and pathological characteristics between these two diseases and Alzheimer's disease (AD), Parkinson's disease (PD), and essential tremor (ET), we speculated regarding whether C9orf72 repeat expansions also play a major role in these three diseases. Using the repeat-primed polymerase chain reaction method, we screened for C9orf72 in three groups of patients with PD (n = 911), AD (n = 279), and ET (n = 152) in the Chinese Han population.

[Roles of axonal transport affected by K141N mutant HSP22 in the pathogenesis of CMT2L].

Objective: To compare the axonal transport of wild-type (WT) and K141N mutant HSP22 in transfected primary cultured cortical neurons.

Methods: The plasmid (pCAGGS-HA-wtHSP22 or pCAGGS-HA-K141NHSP22) with WT or K141N mutant HSP22 gene and a GFP-expressing plasmid (pEGFP-N1) were co-transfected respectively into primary cultured cortical neurons. The axonal transport of WT and K141N mutant HSP22 was observed.

[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].

Objective: To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method.

Methods: Through denaturing high-performance liquid chromatography (DHPLC) combined with DNA sequencing, MFN2 gene mutation analysis was carried out in 35 Chinese CMT2 patients including 9 probands of CMT2 pedigree and 26 sporadic CMT2 patients.

Results: The investigators found three abnormal sequence variations in MFN2 gene: c.

[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].

Objective: To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8 (HSPB8)(K141N) mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L).

Methods: The cell models which transiently expressed pEGFPN1-HSPB8 and pEGFPN1-(K141N)HSPB8 were established. The immunofluorescent co-location study of EGFP-(K141N)HSPB8 and HSPB1, EGFP-(K141N)HSPB8 and neurofilament light chain (NEFL) was carried out in the SHSY5Y cell models.

[Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family].

Objective: To report a Chinese Charcot-Marie-Tooth disease type 2 (CMT2) family.

Methods: All the members in the family were studied clinically,and 6 patients were studied electrophysiologically. Sural nerve biopsy was performed in the proband.

[Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease].

Objective: To analyze the relationship of the pathological features and the gene mutations of Chinese patients with Charcot-Marie-Tooth disease.

Methods: The clinical manifestations and pathological investigations of 26 Chinese patients with Charcot-Marie-Tooth disease, 17 males and 9 females, aged 19.0 (4 - 49), with an average disease course of 0.

[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].

Objective: To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT).

Methods: Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination.

[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].

Objective: To detect the duplication or deletion of peripheral myelin protein 22(PMP22) gene in Chinese patients with Charcot-Marie-Tooth disease(CMT) or hereditary neuropathy with liability to pressure palsies(HNPP) using real-time quantitative polymerase chain reaction.

Methods: Duplications or deletions of PMP22 gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR.

Results: Thirty-six of 113 CMT cases had the PMP22 duplication, 4 HNPP cases had the PMP22 deletion.

[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].

Objective: To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).

Methods: DNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.

Results: One missense mutation C379T was detected in 4 autosomal dominant CMT2 families.

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.

Objective: To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.

Methods: A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.

Objective: To investigate the Cx32 mutation features and the clinical manifestations of Chinese patients with Charcot-Marie-Tooth disease(CMT).

Methods: Twenty-four of 65 unrelated CMT patients were selected for Cx32 mutation screening after the exclusion of the CMT1A 1.5 Mb duplication and male-to-male transmission.

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.