ObjectiveNeurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.MethodsWe collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).ResultsFour subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.ConclusionsWe found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

Magnetic resonance imaging (MRI) has revealed age-related changes in midbrain volume in normal subjects. Atrophy of the midbrain in patients with progressive supranuclear palsy (PSP) has been demonstrated using conventional brain MRI, and it was recently reported that some patients with vascular dementia also have midbrain atrophy. The aim of the present study was to investigate if the patients with subcortical ischemic vascular dementia (SIVD) have atrophic changes in the midbrain. MRIs of 23 SIVD patients, 18 probable PSP patients, and 96 controls were retrospectively analyzed. Differences in the distances between midbrain structures were compared across the patient groups and controls. We measured the anteroposterior diameter (AP), and the distance between the interpeduncular fossa and the aqueduct (IF–AQ), the aqueduct and posterior margin of the superior colliculi (AQ–SC), and the peduncular prominence and the interpeduncular fossa (PP–IF) of the midbrain. The AP diameter and IF–AQ were negatively correlated with age in normal controls (r = -0.21, p < 0.005 for AP; r = -0.14, p < 0.0001 for IF–AQ). In SIVD patients, the AP diameter and IF–AQ were both significantly smaller than in controls (p < 0.001). Changes in the midbrain found for SIVD patients were similar to those seen in PSP patients. Our results suggest that the midbrain decreases in size with normal aging, especially around the tegmental region. This change is more pronounced in patients with SIVD and in patients with PSP. Prospective functional studies are needed to ascertain the clinical relevance of midbrain atrophy in SIVD.

ObjectiveIncreased atrial size is frequently seen in ischemic stroke patients in clinical practice. There is controversy about whether left atrial enlargement (LAE) should be regarded as a risk factor for cerebral infarction. We investigated the association between indexed left atrial volume (LAVI) and conventional stroke risk factors as well as stroke subtypes in acute ischemic stroke patients.MethodsOne hundred eighty two acute cerebral infarction patients were included in this study. Brain magnetic resonance imaging and transthoracic echocardiography were done for all patients within 30 days of diagnosis of acute cerebral infarction. Echocardiographic LAE was identified when LAVI was more than 27 mL/m2. Stroke subtypes were classified by the Trial of Org 10171 in acute stroke treatment classification.ResultsThere were significant differences between subjects with normal and increased LAVI in prevalence of stroke risk factors including atrial fibrillation (p = 0.001), hypertension (p = 0.000), valvular heart disease (p = 0.011) and previous stroke (p = 0.031). An increased LAVI was associated with cardioembolic subtype with an adjusted odds ratio was 6.749 (p = 0.002) compared with small vessel disease.ConclusionIncreased LAVI was more prevalent in those who had cardiovascular risk factors, such as atrial fibrillation, hypertension, valvular heart disease and history of previous stroke. LAE influenced most patients in all subtypes of ischemic stroke but was most prevalent in the cardioembolic stroke subtype. Increased LAVI might be a risk factor of cerebral infarction, especially in patients with cardioembolic stroke subtype.

Clonus is the rhythmic muscle contraction which usually occurs in patients with lesions involving descending motor pathways. Sometimes, rhythmic oscillation of action induced clonus could be confused to action tremor. We report a case of action induced clonus associated with cervical schwannoma which was misdiagnosed as essential tremor. The patient had spasticity in all limbs with exaggerated tendon reflexes, and passive stretch-induced clonus. Imaging and histological examinations revealed a schwannoma extending from C2 to C7. The lesion was partially removed by surgery. Even though essential tremor is a common disease, clinician have to do sufficient neurologic examination considering differential diagnosis.

Background Lewy bodies are pathological hallmarks for the diagnosis of Parkinson's disease, where the core components are composed of aggregated forms of α-synuclein (α-syn). Although α-syn has been investigated as a potential biomarker for PD, its usage has been limited and still remains controversial. Objective An accurate enzyme-linked immunosorbent assay (ELISA) was developed for the detection of α-syn in plasma. The hemolysis score was calculated to eliminate the additive α-syn levels from RBCs. Human plasma samples were collected in heparinized blood tubes from idiopathic Parkinson disease (IPD) and healthy control (HC). Result Hemolysis score had a strong correlation with the level of plasma α-syn. From the limited set of samples in this preliminary study, decreased α-syn concentrations were observed in patients with IPD in comparison to HC after adjusting for hemolysis factor. Similar results with a commercial ELISA kit were found for measuring α-syn from the same set of samples with lower correlation and the reduced accuracy of diagnosis than the current study. ConclusionThe adjustments for the hemolysis factor would be indispensable, supporting plasma α-syn as a potential surrogate biomarker for distinguishing IPD from HC.