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Background@#Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. @*Methods@#From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. @*Results@#Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. @*Conclusions@#This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.
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Background@#Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. @*Methods@#From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. @*Results@#Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. @*Conclusions@#This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.
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No abstract available.
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Diagnóstico , Convulsões , Tomografia Computadorizada de Emissão de Fóton ÚnicoRESUMO
BACKGROUND: Spinal cord involvement of primary central nervous system lymphoma (PCNSL) is rare in a young immunocompetent patient and can be misdiagnosed as an inflammatory demyelinating disease (IDD) of the central nervous system.
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Humanos , Pessoa de Meia-Idade , Biópsia , Encéfalo , Sistema Nervoso Central , Líquido Cefalorraquidiano , Medula Cervical , Doenças Desmielinizantes , Tratamento Farmacológico , Elétrons , Mãos , Leucocitose , Linfoma , Imageamento por Ressonância Magnética , Bulbo , Metotrexato , Esclerose Múltipla , Neuromielite Óptica , Medula EspinalRESUMO
Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating autoimmune disease of central nervous system characterized by relapsing attacks that target the optic nerves and spinal cord, as well as aquaporin-4 (AQP4) enriched periventricular brain regions. The area postrema (AP), located in the dorsal medulla, is the chemosensitive vomiting center and has high AQP-4 expression. The AP syndrome with unexplained hiccups, nausea, and vomiting is one of the core clinical characteristics in the NMOSD and maybe the first presenting symptom. We experienced a 25-year-old woman presented with intractable vomiting, dizziness and oscillopsia. Upbeat nystagmus detected on the bedside examination led to comprehensive neurological workups including magnetic resonance imaging, and she was diagnosed as the AP syndrome. Ten months later, she experienced a recurrence as a longitudinally extensive transverse myelitis and the diagnosis was finally compatible with NMOSD without AQP4-IgG. NMOSD, especially the AP syndrome, should be considered in any dizzy patient with intractable vomiting, and detailed neuro-otologic and neuro-ophthalmologic examinations are warranted for the correct diagnosis.
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Adulto , Feminino , Humanos , Área Postrema , Doenças Autoimunes , Encéfalo , Sistema Nervoso Central , Diagnóstico , Tontura , Soluço , Imageamento por Ressonância Magnética , Mielite Transversa , Náusea , Neuromielite Óptica , Nistagmo Patológico , Nervo Óptico , Recidiva , Medula Espinal , VômitoRESUMO
BACKGROUND: Herpes zoster (HZ) is caused by reactivation of latent varicella-zoster virus (VZV) infection. HZ-associated aseptic meningitis, a rare complication of HZ, can require hospitalization and a long treatment period. OBJECTIVE: A retrospective study was performed to identify potential factors associated with HZ-associated aseptic meningitis development. METHODS: We included all outpatients and patients admitted in the neurology and dermatology departments of a single tertiary center, who were diagnosed with HZ for two years. Among 818 patients, 578 patients were eligible for analysis. RESULTS: The demographics and potential risk factors were compared between the uncomplicated HZ group (n=554) and aseptic meningitis group (n=24). Among the potential factors, the dermatological distribution of skin rash and gender showed statistically significantly different between the two groups. Patients with craniocervical distribution of HZ accounted for 87.5% (n=21) of the aseptic meningitis group and 54.3% (n=301) of the uncomplicated HZ group (p=0.043). The aseptic meningitis group had more men (66.7%, n=16) than the uncomplicated HZ group (42.8%, n=237, p=0.033). Patients with craniocervical distribution had an odds ratio (OR) of 5.884 (p=0.001) for developing aseptic meningitis when compared with the other dermatome involvements. Additional logistic regression analysis resulted in a fading between gender difference (p=0.050) and craniocervical involvement having an OR of 5.667 for aseptic meningitis (p=0.006). CONCLUSION: In HZ patients, skin rash with craniocervical distribution and male gender were associated with a higher risk of aseptic meningitis.
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Humanos , Masculino , Demografia , Dermatologia , Exantema , Herpes Zoster , Herpesvirus Humano 3 , Hospitalização , Modelos Logísticos , Meningite , Meningite Asséptica , Neurologia , Razão de Chances , Pacientes Ambulatoriais , Estudos Retrospectivos , Fatores de RiscoRESUMO
Inflammation might be associated with cognitive impairment and be involved in the pathogenesis of Parkinson’s disease (PD). High-sensitivity C-reactive protein (hs-CRP) is a sensitive biomarker of systemic inflammation. This study aimed to investigate whether serum concentrations of hs-CRP are related to cognitive function in patients with PD. Patients with PD (n = 113, Hoehn and Yahr [H-Y] stage 1-4) underwent evaluation of serum hs-CRP and comprehensive neuropsychological tests that covered the cognitive domains of attention, language, visuospatial function, memory, and executive functions. We categorized subjects with PD as having normal cognition (n=48), mild cognitive impairment (MCI) (n=41), or dementia (n=24). Patients with dementia had a higher hs-CRP level than patients with MCI or normal cognition (2.76 ± 2.53 vs. 1.27 ± 1.99 vs. 0.73 ± 0.88 mg/L, P=0.001). Serum hs-CRP levels were inversely associated with the Mini-Mental State Examination scores and performance on neuropsychological tests of language, visuospatial function, visual memory, and executive function. After controlling for age, sex, symptom duration, education, H-Y stage, and Unified Parkinson’s Disease Rating Scale motor score, multiple regression analyses indicated statistically significant associations between hs-CRP levels and performance on neuropsychological tests of visuospatial function, visual memory, and executive function. This study suggests a possible relationship between serum hs-CRP levels and cognitive function in patients with PD, with higher levels of hs-CRP being associated with poor performance on tests of visuospatial function, visual memory, and executive function.
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DemênciaRESUMO
BACKGROUND AND PURPOSE: Serial nerve conduction studies (NCSs) are recommended for differentiating axonal and demyelinating Guillain-Barré syndrome (GBS), but this approach is not suitable for early diagnoses. This study was designed to identify possible NCS parameters for differentiating GBS subtypes. METHODS: We retrospectively reviewed the medical records of 70 patients with GBS who underwent NCS within 10 days of symptom onset. Patients with axonal GBS and acute inflammatory demyelinating polyneuropathy (AIDP) were selected based on clinical characteristics and serial NCSs. An antiganglioside antibody study was used to increase the diagnostic certainty. RESULTS: The amplitudes of median and ulnar nerve sensory nerve action potentials (SNAPs) were significantly smaller in the AIDP group than in the axonal-GBS group. Classification and regression-tree analysis revealed that the distal ulnar sensory nerve SNAP amplitude was the best predictor of axonal GBS. CONCLUSIONS: Early upper extremity sensory NCS findings are helpful in differentiating axonal-GBS patients with antiganglioside antibodies from AIDP patients.
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Humanos , Potenciais de Ação , Anticorpos , Axônios , Classificação , Diagnóstico , Diagnóstico Precoce , Eletrodiagnóstico , Síndrome de Guillain-Barré , Prontuários Médicos , Condução Nervosa , Estudos Retrospectivos , Nervo Ulnar , Extremidade SuperiorRESUMO
BACKGROUND AND PURPOSE: Hyperkalemic periodic paralysis (hyperKPP) is a muscle sodium-ion channelopathy characterized by recurrent paralytic attacks. A proportion of affected individuals develop fixed or chronic progressive weakness that results in significant disability. However, little is known about the pathology of hyperKPP-induced fixed weakness, including the pattern of muscle involvement. The aim of this study was to characterize the patterns of muscle involvement in hyperKPP by whole-body magnetic resonance imaging (MRI). METHODS: We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene. Muscle fat infiltration, suggestive of chronic progressive myopathy, was analyzed qualitatively using a grading system and was quantified by the two-point Dixon technique. RESULTS: Whole-body muscle MRI analysis revealed muscle atrophy and fatty infiltration in hyperKPP patients, especially in older individuals. Muscle involvement followed a selective pattern, primarily affecting the posterior compartment of the lower leg and anterior thigh muscles. The muscle fat fraction increased with patient age in the anterior thigh (r=0.669, p=0.009), in the deep posterior compartment of the lower leg (r=0.617, p=0.019), and in the superficial posterior compartment of the lower leg (r=0.777, p=0.001). CONCLUSIONS: Our whole-body muscle MRI findings provide evidence for chronic progressive myopathy in hyperKPP patients. The reported data suggest that a selective pattern of muscle involvement-affecting the posterior compartment of the lower leg and the anterior thigh-is characteristic of chronic progressive myopathy in hyperKPP.
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Humanos , Canalopatias , Perna (Membro) , Imageamento por Ressonância Magnética , Músculos , Atrofia Muscular , Doenças Musculares , Paralisia Periódica Hiperpotassêmica , Patologia , Coxa da PernaRESUMO
BACKGROUND: Fibromyalgia syndrome (FMS) is a complex disorder characterized by chronic widespread pain (CWP), multiple areas of tenderness, sleep disturbance, fatigue, and mood or cognitive dysfunction. Myotonia congenita (MC) is an inherited myopathic disorder that is caused by mutations in the gene encoding the skeletal muscle chloride channel, which can infrequently manifest as generalized muscle cramps or myalgia. CASE REPORT: The first case was a 33-year-old woman who complained of CWP and chronic headache occurring during pregnancy, and the second case was a 37-year-old man with CWP and depression who suffered from cold-induced muscle cramps. These two patients were initially diagnosed with FMS by rheumatologists, based on CWP of longer than 3 months duration and mechanical tenderness in specific body regions. However, these two FMS patients were subsequently also diagnosed with MC. CONCLUSIONS: These two cases are the first report of an overlap of CWP between FMS and MC.
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Adulto , Feminino , Humanos , Gravidez , Regiões do Corpo , Canais de Cloreto , Dor Crônica , Depressão , Fadiga , Fibromialgia , Transtornos da Cefaleia , Cãibra Muscular , Músculo Esquelético , Mialgia , Miotonia CongênitaRESUMO
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BACKGROUND: The outcome of spontaneous intracranial hypotension (SIH) is unpredictable and some patients have persistent and often incapacitating symptoms. This study was aimed to investigate whether abnormalities on initial magnetic resonance imaging (MRI) can predict the outcome in patients with SIH. METHODS: We retrospectively included 44 patients with SIH. Brain MRI was available for all patients. Treatment consisted of conservative treatment and/or high-volume epidural blood patching. Patients were divided into two groups: favorable or non-favorable group. Favorable group was defined as clinical improvement by conservative therapy or one trial of autologous epidural blood patching; non-favorable group as more than two week of admission, two or more trials of autologous epidural blood patching, or relapse of orthostatic headache. RESULTS: Twenty-one (48%) of 44 patients were classified as the favorable group. The non-favorable group had several abnormal findings on brain MRI (16 cases vs. 5 cases in favorable group, p<0.003), including platybasia (1), skull base tumor (1), Chiari I malformation (1), diffuse mild thickening and enhancement of dural and epidural layer of thoracic spine (1), pituitary enlargement (3), sagging brain (3) and subdural hemorrhage (4). In the non-favorable group, 13 out of 23 patients (57%) showed pachymeningeal enhancement in brain MRI (2 patients in favorable group, p<0.001). CONCLUSIONS: Brain MRI abnormalities were more frequently related with non-favorable outcomes in SIH. Pachymeningeal enhancement in particular could suggest an unfortunate prognosis.
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Humanos , Placa de Sangue Epidural , Encéfalo , Cefaleia , Hematoma Subdural , Hipotensão Intracraniana , Imageamento por Ressonância Magnética , Platibasia , Prognóstico , Recidiva , Estudos Retrospectivos , Base do Crânio , Coluna VertebralRESUMO
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity and weakness of the lower limbs. Mutations in the spastin gene (SPAST) are the most common causes of HSP, accounting for 40-67% of autosomal dominant HSP (AD-HSP) and 12-18% of sporadic cases. Mutations in the atlastin-1 gene (ATL1) and receptor expression-enhancing protein 1 gene (REEP1) are the second and third most common causes of AD-HSP, respectively. METHODS: Direct sequence analysis was used to screen mutations in SPAST, ATL1, and REEP1 in 27 unrelated Korean patients with pure and complicated HSP. Multiplex ligation-dependent probe amplification was also performed to detect copy-number variations of the three genes. RESULTS: Ten different SPAST mutations were identified in 11 probands, of which the following 6 were novel: c.760A>T, c.131C>A, c.1351_1353delAGA, c.376_377dupTA, c.1114A>G, and c.1372A>C. Most patients with SPAST mutations had AD-HSP (10/11, 91%), and the frequency of SPAST mutations accounted for 66.7% (10/15) of the AD-HSP patients. No significant correlation was found between the presence of the SPAST mutation and any of the various clinical parameters of pure HSP. No ATL1 and REEP1 mutations were detected. CONCLUSIONS: We conclude that SPAST mutations are responsible for most Korean cases of genetically confirmed AD-HSP. Our observation of the absence of ATL1 and REEP1 mutations needs to be confirmed in larger series.