Cerebral small vessel disease-related brain lesions such as white matter lesions and lacunes are common findings of magnetic resonance imaging in the elderly. These lesions are thought to be major contributors to disability in old age, and risk factors that include age and hypertension have been established. The radiological, histopathologic and clinical phenotypes of age-related cerebral small...

Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay-Sachs disease ...

A specific variant in NDUFA1 (c.94G>C, p.Gly32Arg) has been reported pathogenic in two separate papers; we have re-evaluated the variant and suggest that it should presently not be considered a disease-causing variant. Pathogenic variants in NDUFA1 were first reported in 2007 in two unrelated male patients with an isolated complex I deficiency and developmental delay, hypotonia, ataxia, nystagm...

Oculogastrointestinal neurodevelopmental disorder (OMIM #619318) has been described in seven previously published individuals who harbor biallelic pathogenic variants the CAPN15 gene. Biallelic missense presumably lead to a more moderate phenotype of eye abnormalities and developmental delay, while loss function (nonsense, frameshift) exhibit severe phenotypes including microcephaly craniofacia...

Dystroglycanopathies are a genetically and clinically heterogeneous group of muscular dystrophies that are characterized by reduced glycosylation of α-dystroglycan. Among 18 causative genes, the fukutin-related protein (FKRP; MIM 606596) gene is the most common cause in Caucasians.1 However, FKRP mutations have rarely been found in the Asian population,2 and have not been reported previously in...

Dear Editor, Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping. MC is mostly associated with dominant or recessive mutations in CLCN1. However, SCN4A mutations are occasionally implicate...

To the Editor : We present our recent experience concerning an initial pitfall in the molecular characterization of two distant relatives affected by Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (1, 2) (Fig. 1), and corrected after extending the analyses to informative family members. In particular, we underscore the need for caution in interpreting molecular findings when...

Introduction Compared to parents of adults with other types of disabilities, parents of adults with autism spectrum disorder (ASD) experience worse well-being. Thus, it is crucial to identify the individual, parent and social–environmental correlates of caregiving experiences among parents of adults with ASD. Method For this study, 130 parents of adults with ASD responded to a survey about care...

Dear Sirs, Among the causes of myocardial infarction, spontaneous coronary artery dissection (SCAD) is rare and underdiagnosed, owing to the limited accuracy of coronary angiography. Without occlusion, SCAD can remain asymptomatic. The largest series comprised 23 cases from > 11,000 coronary angiograms at Vancouver General Hospital and 87 retrospectively identified cases that occured 1979–2011 ...

Objective—To define the genetic landscape of amyotrophic lateral sclerosis (ALS) and assess the contribution of possible oligogenic inheritance, we aimed to comprehensively sequence 17 known ALS genes in 391 ALS patients from the United States. Methods—Targeted pooled-sample sequencing was used to identify variants in 17 ALS genes. Fragment size analysis was used to define ATXN2 and C9ORF72 exp...