Apolipoprotein E ε4 Is Associated With the Development of Incident Dementia in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients With p.Arg544Cys Mutation.

Background And Purpose: To identify clinical, laboratory, and magnetic resonance imaging (MRI) features in predicting incident stroke and dementia in Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Materials And Methods: We enrolled 87 Korean CADASIL patients who had undergone baseline clinical, laboratory, and MRI examinations between March 2012 and February 2015. The primary outcome of this study is the occurrence of stroke and dementia during the study period.

Inosine 5'-Monophosphate to Raise Serum Uric Acid Level in Multiple System Atrophy (IMPROVE-MSA study).

The aim of this trial was to investigate the safety, tolerability, and capability of serum uric acid (UA) elevation of inosine 5'-monophosphate (IMP) in multiple system atrophy (MSA). The IMPROVE-MSA trial was a randomized, double-blind, placebo-controlled trial in patients with MSA with no history of hyperuricemia-related disorders. The participants were assigned to placebo (n = 25) or IMP (n = 30) in a 1 to 1 ratio, and then followed up for 24 weeks.

Low serum vitamin D levels in patients with myasthenia gravis.

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease. Vitamin D has important roles both in the autoimmune response and in skeletal muscles. We investigated the levels of 1,25-dihydroxy vitamin D [1,25(OH)D] and 25-hydroxy vitamin D [25(OH)D] in patients with MG and healthy subjects.

A prognostic factor in focal hand dystonia: typist's cramp cases and literature review.

The prognosis of focal hand dystonia (FHD) remains unclear. We retrospectively studied six patients with typist's cramp in our hospitals, and five cases in the PubMed database. All of them were right-handed.

Characteristics of the Drip-and-Ship Paradigm for Patients with Acute Ischemic Stroke in South Korea.

Background: Data on the drip-and-ship paradigm in Korea are limited. The present study aimed to evaluate the use of the drip-and-ship paradigm and the time delays and outcomes associated with the paradigm in Korea.

Methods: We used data from the Clinical Research Center for Stroke-5 registry between January 2011 and March 2014.

Both binding and blocking antibodies correlate with disease severity in myasthenia gravis.

Myasthenia gravis (MG) is an autoimmune disease associated with antibodies directed to the postsynaptic muscle components of the neuromuscular junction. The heterogeneous nature of the acetylcholine receptor (AChR) antibody response had led to the categorization of AChR antibodies into 3 types: binding, blocking, and modulating antibodies. The purpose of this study is to compare the AChR antibodies' type with the clinical severity of MG patients.

Lying-down nystagmus and head-bending nystagmus in horizontal semicircular canal benign paroxysmal positional vertigo: are they useful for lateralization?

Background: Lateralization of horizontal semicircular canal benign paroxysmal positional vertigo (HSC-BPPV) is very important for successful repositioning. The directions of lying-down nystagmus (LDN) and head-bending nystagmus (HBN) have been used as ancillary findings to identify the affected sites. This retrospective study was performed to evaluate the lateralizing values of LDN and HBN using clinical and laboratory findings for lateralizing probabilities in patients with HSC-BPPV.

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.

Sandhoff disease is a rare autosomal recessive metabolic disorder of GM2 gangliosides. It is caused by a lack of functional N-acetyl-β-D-glucosaminidase A and B because of mutations in the HEXB gene. We describe a 55-year-old woman with adult Sandhoff disease presenting as brachial amyotrophic diplegia.

Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations.

Background And Aim: There are variations of migraine prevalence in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) among different regions of the world. Previous studies on Asian CADASIL patients have not provided detailed descriptions of the characteristics of their headaches. The aims of this study were to determine prevalence and characteristics of headaches and to investigate associations between headache and other clinical symptoms or brain magnetic resonance imaging (MRI) findings among homogenous group of patients having the same R544C mutation.

Is progressive upper-body apraxia a corticobasal syndrome?

Corticobasal degeneration (CBD) is characterized by various clinical manifestations including corticobasal syndrome, progressive supranuclear palsy-like syndrome and frontotemporal dementia. Focal cortical atrophy syndrome as the initial manifestation rarely occurs in CBD. Here, we present a 62-year-old man and a 70-year-old man who were admitted due to clumsiness in the arms.

Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of cerebral small blood vessels caused by mutations in the NOTCH3 gene. The initial detection of CADASIL may be more difficult among Asian populations because common clinical phenotypes and neuroimaging findings are not frequently found in these populations. The purpose of this study was to screen the NOTCH3 gene for mutations among consecutive patients with acute ischemic stroke from our region in Korea.

Simple Partial Status of Forced Thinking Originated in the Mesial Temporal Region: Intracranial Foramen Ovale Electrode Recording and Ictal PET.

Forced thinking (FT) is a rare epileptic phenomenon which is usually seen in patients with frontal lobe epilepsy. We report a rare case of mesial temporal lobe epilepsy presenting FT as simple partial status epilepticus. A 50-year-old woman with left hippocampal sclerosis developed a prolonged episode of continuous FT for five days after she experienced a clustering of complex partial seizures during the period of preoperative video-electroencephalography (EEG) monitoring.

Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the NOTCH3 gene. Several characteristic population-specific clinical phenotypes and neuroimaging features have been reported in CADASIL. This study investigated the clinical stroke presentation and cranial magnetic resonance imaging (MRI) findings in a group of patients with CADASIL.

Cognitive impairments in multiple system atrophy of the cerebellar type.

Background And Purpose: We investigated the cognitive profiles in a large sample of patients with multiple system atrophy-cerebellar ataxia (MSA-C) and compared directly them in patients with clinical diagnosis of probable MSA-C without dementia and control subjects with intact cognition.

Methods: We prospectively enrolled 26 patients with clinical diagnosis of probable MSA-C. All patients underwent a standardized neuropsychological test of the Seoul Neuropsychological Screening Battery.

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.

Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is located on chromosome 20p13 and encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A biosynthesis.

Case Report: In this report we describe a case of atypical PKAN with a novel PANK2 mutation, presenting with a 10-year history of postural tremor involving both hands.

Parkinsonsim due to a Chronic Subdural Hematoma.

Subdural hematoma is a rare cause of parkinsonism. We present the case of a 78-year-old man with right-side dominant parkinsonism about 3 months after a minor head injury. MRI reveals a chronic subdural hematoma on the left side with mildly displaced midline structures.

Unilateral standing leg tremor as the initial manifestation of Parkinson disease.

Background: The aim of this study was to analyze the different forms of leg tremors exhibited while standing in patients with Parkinson disease (PD), and to determine if the type of leg tremor exhibited is indicative of prognosis or treatment response in PD patients.

Methods: We studied the clinical characteristics of five PD patients (all women; mean age, 59 years, range, 53-64 years) with unilateral standing leg tremor as the initial manifestation of PD, including their electrophysiological findings and the results of long-term follow-up.

Results: For each patient, parkinsonism either existed at the time of onset of the initial symptoms or developed later.

Palilalia, echolalia, and echopraxia-palipraxia as ictal manifestations in a patient with left frontal lobe epilepsy.

Palilalia is a relatively rare pathologic speech behavior and has been reported in various neurologic and psychiatric disorders. We encountered a case of palilalia, echolalia, and echopraxia-palipraxia as ictal phenomena of left frontal lobe epilepsy. A 55-year-old, right-handed man was admitted because of frequent episodes of rapid reiteration of syllables.