A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT: A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T). CONCLUSIONS: This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.

Association between Cerebrospinal Fluid S100B Protein and Neuronal Damage in Patients with Central Nervous System Infections

PURPOSE: S100B protein is widely used as a measure of glial activity or damage in several brain conditions. Central nervous system (CNS) infections can cause neurological sequelae because of parenchyma invasion. It is difficult to predict further neuronal damage in the CNS infection. The present study is aimed to evaluate the role of the cerebrospinal fluid (CSF) S100B protein as an indicator of neuronal damage in CNS infection. MATERIALS AND METHODS: We measured the concentration of CSF S100B protein in 62 patients with a CNS infection using an Enzyme-Linked Immunosorbent Assay. The patients with CNS infections were classified as having no neuronal damage (CNS-N) or as having neuronal damage (CNS+N) according to the presence of neurological change or structural lesions on brain MRI. RESULTS: The CSF S100B protein level of the CNS+N group (n=22, 0.235 microg/L, 0.10-2.18) was significantly higher than that of the CNS-N group (n=40, 0.087 microg/L, 0.06-0.12) and control group (n=40, 0.109 microg/L, 0.07-0.14, p<0.01). Using an arbitrary cut off value, S100B-positive CSF was detected in 2.5% of the CNS-N group and in 50% of the CNS+N group (p<0.05). CONCLUSION: These findings suggest that increased S100B protein levels in the CSF may be associated with the neuronal damage following CNS infections.

Concomitant Functional Gastrointestinal Symptoms Influence Psychological Status in Korean Migraine Patients

BACKGROUND/AIMS: Migraine is frequently accompanied by symptoms consistent with functional gastrointestinal disorders (FGIDs). This study evaluated the prevalence of functional gastrointestinal symptoms and assessed the symptoms' relationship with the concomitant functional symptoms of anxiety, depression, and headache-related disability. METHODS: This prospective study included 109 patients with migraine who were recruited from a headache clinic at a teaching hospital. The participants completed a self-administered survey that collected information on headache characteristics, functional gastrointestinal symptoms (using Rome III criteria to classify FGID), anxiety, depression, and headache-related disability. RESULTS: In total, 71% of patients met the Rome III criteria for at least one FGID. In patients with FGID, irritable bowel syndrome was the most common symptom (40.4%), followed by nausea and vomiting syndrome (24.8%) and functional dyspepsia (23.9%). Depression and anxiety scores were significantly higher in patients meeting the criteria for any FGID. The number of the symptoms consistent with FGID in individual patients correlated positively with depression and anxiety. CONCLUSIONS: FGID symptoms defined by the Rome III criteria are highly prevalent in migraine. These symptoms correlate with psychological comorbidities, such as depression and anxiety.

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy

Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 +/- 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two patients with proximodistal phenotype, and one asymptomatic patient. There were no differences between LGMD2B and MM groups in terms of onset age, serum CK levels and pathological findings. Dysferlinopathy patients usually have young adult onset and high serum CK levels. However, heterogeneity of clinical presentations and pathologic findings upon routine staining makes it difficult to diagnose dysferlinopathy. These limitations make immunohistochemistry currently the most important method for the diagnosis of dysferlinopathy.

Differences in Clinical Features and Disability according to the Frequency of Medication Use in Patients with Chronic Migraine

BACKGROUND AND PURPOSE: Chronic migraine (CM) has a significant impact on daily activities, and analgesic overuse is a major contributing factor to migraine transformation. Limited information is available on the functional consequences of CM stemming from analgesic overuse. This study evaluated the impact of the frequency of analgesic medication use on headache-related disability and clinical features in patients with CM. METHODS: Patients with CM were enrolled consecutively and classified into two groups according to their frequency of medication use: or =15 days/month (CM-MH, n=68). All patients completed a structured questionnaire concerning the clinical features of their migraine, a validated version of the Migraine Disability Assessment questionnaire (MIDAS), and the Headache Impact Test-6 (HIT-6). RESULTS: The pain intensity, as measured by a visual analog scale, was greater in the CM-MH group than in the CM-ML group (8.5+/-0.2 vs. 7.7+/-0.3, mean+/-SD; p<0.05). In the disability domain, the MIDAS scores were significantly higher for CM-MH patients than for CM-ML patients (47.6+/-4.8 vs. 26.8+/-4.5, p<0.01). The impact from migraine, as measured by the HIT-6, was greater for CM-MH patients than for CM-ML patients (65.6+/-1.0 vs. 62.1+/-1.0, p<0.05). CONCLUSIONS: Our results indicate that the headache pain intensity and disability are greater in patients with CM who use medication frequently.

Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients

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) scale were compared among patients according to SMN1 : SMN2 genotypes. RESULTS: There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1 : SMN2 genotype, 2 : 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2 : 0) was significantly younger (34+/-15.38 years) than that of patients with 2 : 1, 2 : 2 and 2 : 3 of the SMN1 : SMN2 genotype (59.5+/-5.09; 52.69+/-16.46 and 50+/-0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2 : 0 genotype (40%) than in the 2 : 1, 2 : 2 and 2 : 3 genotypes (83.3%, 100% and 100%) (p=0.02). CONCLUSION: The homozygous SMN2 deletion (2 : 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.