Ji‐Man Hong

Purpose: The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. Materials and Methods:We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) sca

This study suggests that baseline enlarged BG-PVS can be an indicator of the progression of motor disability in PD.

Diabetic neuropathy can be affected by previous insulin resistance despite regular glycaemic control. Dyslipidaemia should be controlled in patients who show high insulin resistance because HDL cholesterol and triglycerides are strongly correlated with later development of diabetic neuropathy.

In hypoalbuminemic patients, the measurement of free phenytoin level is necessary to properly evaluate the phenytoin level than that calculated from total phenytoin level.

Purpose: The pharmacokinetics of phenytoin is complicated by genetic and environmental differences. It is, therefore, important to monitor the serum concentrations in patients who receive phenytoin. Because most of the phenytoin in serum is bound to proteins, the level of serum albumin influences the amount of free phenytoin. Materials and Methods: We compared the measured and calculated free phenytoin levels in epileptic patients who were taking phenytoin monotherapy, using the Sheiner-Tozer eq

This study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in <i>B4GALNT1</i>. This finding expands the clinical and genetic spectra of peripheral neuropathy.

BACKGROUND: Genetic myopathy is a clinically and genetically heterogeneous group of genetic disorders characterized by progressive degeneration of skeletal muscles. Epidemiological studies of genetic myopathy have not yet been performed in Korea. OBJECTIVES: This study used data from the national health insurance claims database to determine the prevalence and socioeconomic status of patients with genetic myopathy in Korea. METHODS: We analyzed the Health Insurance Review and Assessment database

In conclusion, the eight Korean patients in this study with NM shared common clinical expressions such as proximal limb weakness, reduced deep tendon reflex, and dysmorphic features. This study, however, showed that clinical heterogeneity ranged from typical congenital, mildly affected childhood to the adult onset form with acute respiratory failure. The pathological findings in this study were in accordance with those of other previous reports.

With the exception of patients with epilepsy, transient splenial lesion of the corpus callosum (SCC) has been rarely reported. We investigated two young men with temporary encephalopathy. One had a staphylococcal infection, the other had a viral infection. The brain MRI findings of these patients showed a transient focal lesion in the splenium of the corpus callosum. Transient splenial lesions of the corpus callosum might be a non-specific end point of a different disease process leading to cyto

Purpose: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM. Materials and Methods: Eight patients underwent analyses of clinical manifestations by a structured protocol. Diagnoses were established by a muscle biopsy. Results: T

Rhinocerebral mucormycosis (RCM) is an uncommon and fatal clinical syndrome resulting from an opportunistic infection caused by a fungus of the order Mucorales in immunocompromized patients. The mortality and morbidity in the patients with intracranial involvement is invariably high, and it was reported that most survivors had early diagnosis and received aggressive treatment. Therefore, we retrospectively reviewed four patients of pathologically confirmed mucormycosis to find out the clues for

Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between contracted D4Z4-repeat size and the FSHD phenotype. Methods: We studied 34 genetically confirmed patie

Cryptococcal meningitis is one of the common fungal infections of the central nervous system, usually developed in immunocompromised patients. Cerebral infarction has been reported as one of the late complications in cryptococcal meningitis. We report a case of cryptococcal meningitis, which initially presented with multiple cerebral infarctions of the bilateral basal ganglia and thalamus without the usual clinical signs of meningitis.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between contracted D4Z4-repeat size and the FSHD phenotype. Methods: We studied 34 genetically confirmed patie