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Objective To investigate the occurrence rate and related risk factors for post-stroke emotional incontinence (PSEI). Methods The clinical data [sex, age, body mass index (BMI), education, marital status, medical history (hypertension, heart disease, diabetes, hyperlipemia, smoking and drinking) and family history of stroke] of 162 stroke patients were recorded. Serum homocysteine (Hcy) level was examined. Head CT and/or MRI were used to indicate stroke subtype, site of lesion and number of lesion. Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (DSM-Ⅴ) Chinese version and Hamilton Depression Rating Scale-17 Items (HAMD-17) were used to evaluate the degree of depression. House diagnostic standard was used to diagnose PSEI. Univariate and multivariate backward Logistic regression analysis was used to screen related risk factor for PSEI. Spearman rank correlation analysis was used to discuss the correlation between PSEI and post-stroke depression (PSD). Results Among 162 stroke patients, 12 cases were diagnosed as PSEI (7.41% ). The ratio of age < 60 years in PSEI group was significantly higher than non-PSEI group (P = 0.045). The ratio of smoking in PSEI group was significantly lower than non-PSEI group (P = 0.036). Univariate and multivariate backward Logistic regression analysis showed age < 60 years was independent risk factor for PSEI (OR = 4.000, 95%CI: 1.149-13.924; P = 0.029). Ten cases were combined with PSD in 12 PSEI patients, and the co-morbidity rate of PSEI and PSD was83.33%. Spearman rank correlation analysis showed PSEI was positively related to PSD (rs = 0.305, P = 0.000). Conclusions PSEI is common affective disorder in stroke patients, which easily happens in patients under 60 years of age. DOI: 10.3969/j.issn.1672-6731.2017.12.010

Objective To report 4 cases of ataxia-telangiectasia (AT) with ATM genetic mutation and to summarize the clinical and genetic characteristics of AT by literatures review. Methods Clinical data of 4 patients from 3 AT families was collected in detail and genomic DNA of the patients and family members was extracted from peripheral blood. Whole exon sequencing (WES) and polymerase chain reaction (PCR) of Sanger sequencing was used to analyse ATM genic mutation. Results Four patients were characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, recurrent infection caused by immunodeficiency, α-fetoprotein (AFP) elevation and cerebellar atrophy shown in brain MRI were presented. Sequence analysis of ATM gene revealed two known compound heterozygous mutations c.8287C > T (p.Arg2763X) and c.9139C > T (p.Arg3047X) which were nonsense mutation in Case 1 and Case 2. In Case 3, there were two compound heterozygous mutations, including nonsence mutation c.8911C > T (p.Gln2971X) and deficit mutation c.7141_7151delAATGGAAAAAT (p.Asn2381GlufsX18) both of which were not reported previously. Case 4 carried homozygotic mutation c.1402_1403delAA (p. Lys468GlufsX18). Conclusions Four patients were diagnosed as AT with typical clinical manifestations. Patients with variant AT present mild nervous system symptom, normal head MRI and less involvement other than nervous systemt. Definite diagnosis should be dependant on ATM genetic testing. DOI: 10.3969/j.issn.1672-6731.2017.07.008

Objective To report 4 cases of fatty acid hydroxylase - associated neurodegeneration (FAHN) and to summarize the clinical and genetic characteristics of FAHN by literatures review. Methods Four cases of FAHN patients' clinical and family data were collected in detail. The gDNA of patients and their parents were extracted from peripheral blood. FA2H gene was conducted and followed by Sanger sequencing. Results Among the 4 cases, 3 cases (Case 2, Case 3, Case 4) presented typical manifestations of FAHN while the other (Case 1) was atypical. Genetic sequencing showed FA2H gene mutation in all affected patients. Compound heterozygous mutation c.461G > A (p.Arg154His) and c.794T > G (p.Phe265Cys) were seen in Case 1. In Case 2, only one documented heterozygous mutation c.703C > T (p.Arg235Cys) was found, and dificit mutation was not found in single nucleotide polymorphism (SNP) chip test of the patient and her mother. Compound heterozygous mutation c.688G > A (p.Glu230Lys) and insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47) were presented in Case 3. In Case 4, compound heterozygous mutation c.688G > A (p.Glu230Lys), c.968C > A (p.Pro323Gln) and c.976G > A (p. Gly326Asp) were seen, while his father was the carrier of c.688G > A (p.Glu230Lys) mutation and his mother was the carrier of c.968C > A (p.Pro323Gln) and c.976G > A (p.Gly326Asp) mutation. According to the standard of American College of Medical Genetics and Genomics (ACMG), c.461G > A (p.Arg154His) and c.794T > G (p.Phe265Cys) in Case 1, and c.703C > T (p.Arg235Cys) in Case 2 were considered as "likely pathogenic", while FA2H gene compound heterozygous mutation c.688G > A (p.Glu230Lys), insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47) in Case 3 was as "pathogenic", and in Case 4, the FA2H gene mutation c.688G > A (p.Glu230Lys) and c.968C > A (p.Pro323Gln) were "pathogenic" and c.976G > A (p.Gly326Asp) was "likely pathogenic". Conclusions FAHN has highly clinical and genetic heterogenieity in which spastic paraplegia is the main clinical presentation. In typing diagnosis for patietns with autosomal recessive herditary spastic paraplegia (HSP), especially combined with dyslalia, dysnoesia, and clinical features of white matter lesion and cerebellar atrophy, FA2H gene mutation-induced FAHN should be considered. DOI: 10.3969/j.issn.1672-6731.2017.07.010