Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.

Familial cortical myoclonic tremor with epilepsy is an autosomal dominant neurodegenerative disease, characterized by cortical tremor and epileptic seizures. Although four subtypes (types 1-4) mapped on different chromosomes (8q24, 2p11.1-q12.

A comparison of six clock-drawing test scoring methods in a nursing home.

Background: Clock-drawing test (CDT) is widely used but lack of a suitable scoring method.

Aims: To compare the validity of six common CDT scoring methods and to find out the best one.

Methods: The drawing CDT was administered in a Chinese nursing-home inhabitants living on the mainland including 110 dementia, 118 MCI (mild cognitive impairment), and 133 random normal.

Genetic analysis of the CHCHD2 gene in Chinese patients with familial essential tremor.

Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). However, the relationship between CHCHD2 and essential tremor (ET) patients was still unknown.

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.

Objective: Familial cortical myoclonic tremor with epilepsy is a rare epilepsy syndrome. Herein, we report on nine Chinese familial cortical myoclonic tremor with epilepsy pedigrees to delineate its clinical and neurophysiological features.

Methods: Detailed clinical and neurophysiological data were obtained.

Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease.

CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population.

[Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2].

Objective: To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.

Methods: The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.

Results: Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members.

Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.

Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.

pERK1/2 silencing sensitizes pancreatic cancer BXPC-3 cell to gemcitabine-induced apoptosis via regulating Bax and Bcl-2 expression.

Background: Our previous study has demonstrated that knockdown of activated ERK1/2(pERK1/2) sensitizes pancreatic cancer cells to chemotherapeutic drug gemcitabine (Gem) treatment. However, the details of this survival mechanism remain undefined. It has also shown that Bcl-2 confers resistance and Bax sensitizes to gemcitabine-induced apoptosis in pancreatic cancer cells.

BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.

Silver syndrome/spastic paraplegia 17 is an autosomal dominant, complicated hereditary spastic paraparesis in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Heterozygous mutations of its causative gene, the Berardinelli-Seip congenital lipodystrophy gene, have a broader spectrum of phenotypes including Silver syndrome, distal hereditary motor neuropathy type V and Charcot-Marie-Tooth disease type 2. We report a Chinese family carrying the S90L mutation with Silver syndrome and discuss our literature review of the clinical phenotypes of S90L.

Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. At least 52 different gene loci have been identified so far, involving autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and maternal inheritance. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes are responsible for about 50% of pure AD-HSP patients.