European Journal of NeurologyVolume 19, Issue 1 p. e4-e6 LETTER TO THE EDITOR Peripheral microcirculation dysfunction evaluated by computed tomography perfusion study in Fabry patients L.-S. Ro, L.-S. Ro Departments of Neurology, Chang Gung Memorial Hospital and Chang Gung University These authors contributed equally.Search for more papers by this authorM.-F. Liao, M.-F. Liao Department of Neurology, Buddhist Tzu Chi General Hospital, Taipei Branch These authors contributed equally.Search for more papers by this authorC.-J. Chen, C.-J. Chen Department of Radiology, Taipei Medical University-Shuang Ho HospitalSearch for more papers by this authorY.-T. Lau, Y.-T. Lau Department of Physiology and Pharmacology, Chang Gung Memorial Hospital and Chang Gung UniversitySearch for more papers by this authorK.-T. Lu, K.-T. Lu Department of Life Science, National Taiwan Normal UniversitySearch for more papers by this authorW.-H. Chen, W.-H. Chen Department of Neurology, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, TaiwanSearch for more papers by this author L.-S. Ro, L.-S. Ro Departments of Neurology, Chang Gung Memorial Hospital and Chang Gung University These authors contributed equally.Search for more papers by this authorM.-F. Liao, M.-F. Liao Department of Neurology, Buddhist Tzu Chi General Hospital, Taipei Branch These authors contributed equally.Search for more papers by this authorC.-J. Chen, C.-J. Chen Department of Radiology, Taipei Medical University-Shuang Ho HospitalSearch for more papers by this authorY.-T. Lau, Y.-T. Lau Department of Physiology and Pharmacology, Chang Gung Memorial Hospital and Chang Gung UniversitySearch for more papers by this authorK.-T. Lu, K.-T. Lu Department of Life Science, National Taiwan Normal UniversitySearch for more papers by this authorW.-H. Chen, W.-H. Chen Department of Neurology, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, TaiwanSearch for more papers by this author First published: 19 December 2011 https://doi.org/10.1111/j.1468-1331.2011.03558.xCitations: 2 L.-S. Ro, Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, 199 Tun Hwa North Road, Taipei, Taiwan (tel.: +00 886 3 3281200, extn.: 8351; fax: +00 886 3 3287226; e-mail: cgrols@adm.cgmh.org.tw) and W.-H. Chen, Department of Neurology, Shin Kong Wu Ho-Su Memorial Hospital, 95 Wen Chang Road, Shih Lin, Taipei, Taiwan (tel.: +00 886 2 28332211, extn.: 2594; fax: +00 886 2 28344906; e-mail: M000735@ms.skh.org.tw). Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume19, Issue1January 2012Pages e4-e6 RelatedInformation

Objectives: Longitudinally extensive transverse myelitis (LETM) with spinal cord lesions spanning three or more vertebral segments is a key feature of neuromyelitis optica (NMO). However, the role of anti-aquaporin 4 (anti-AQP4) antibody, a sensitive biomarker of NMO, in the conversion of LETM to NMO remains uncertain. Methods: Thirty first-ever LETM patients were retrospectively analysed and divided into two groups according to the presence of anti-AQP4 antibodies. Results: Eighteen (60%) patients presented with anti-AQP4 antibodies. Fifteen (83.33%) anti-AQP4 (+) LETM patients converted to NMO, while only three of 12 (25%, p = 0.002) anti-AQP4 (-) LETM patients progressed to NMO, over a mean follow-up period of 5.63 years. Seven (38.89%) anti-AQP4 (+) and one (8.33%) anti-AQP4 (-) LETM patients received interferon-β1a treatment, respectively. Anti-AQP4 (+) LETM patients demonstrated a higher immunogamma globulin (IgG) index (0.68 ± 0.43 versus 0.47 ± 0.19, p = 0.018), annual relapse rate (0.72 ± 0.31 versus 0.42 ± 0.17, p = 0.01) and Kurtzke Expanded Disability Status Scale (4.28 ± 2.22 versus 2.67 ± 2.26, p = 0.031), than anti-AQP4 (-) LETM patients. In spinal magnetic resonance imaging (MRIs), more than half (58.33%) of the anti-AQP4 (+) LETM patients were observed to have central grey matter-predominant involvement in the axial view, while peripheral white matter-predominant involvement (51.85%) was the most common pattern observed in the anti-AQP4 (-) LETM patients. Conclusion: Anti-AQP4 (+) LETM demonstrated a high conversion rate to NMO (83.33%), suggesting that anti-AQP4 (+) LETM may represent an early, isolated syndrome of NMO spectrum disorder. The greater number of patients receiving interferon-β treatment in anti-AQP4 (+) LETM may contribute to its high annual relapse rate.

Background:Patients with acute disseminated encephalomyelitis (ADEM) may relapse and some may ultimately convert to multiple sclerosis (MS); however, no criteria that can predict MS conversion are available to date. Our aim was to describe the clinical and magnetic resonance imaging (MRI) features of patients with an initial ADEM attack and evaluate which MRI criteria can predict conversion to MS.Methods:We retrospectively reviewed the records of 36 patients diagnosed with ADEM. We determined clinical signs/symptoms, examined the cerebrospinal fluid (CSF), and performed brain MRI scans and compared the findings between patients who did and did not convert to MS.Results:Clinical signs/symptoms, and CSF analysis show no significant difference between the two groups. The rate of conversion to MS from ADEM in Taiwanese patients is low (11%) after a mean follow-up period of 28.36 months. Modified McDonald criteria were fulfilled in 19/36 patients: 21% (4/19) of those patients developed MS according to Poser criteria subsequently. Of the other patients (17/36) who did not fulfill these criteria, none converted to MS. (log rank test; P = 0.027).Conclusions:It is difficult to predict from initial clinical presentations to address which patients with ADEM will convert to MS. Patients with ADEM whose brain MRI findings met the modified McDonald criteria may have clinically isolated syndrome because they have a significantly higher probability of conversion to MS. In contrast, patients whose brain MRI findings did not meeting these criteria may be considered as having classic ADEM because they have a lower probability of conversion to MS.

Background:Non-ketotic hyperglycemic chorea-ballism (NKHCB) had special reversible hyperintense on T1-weighted imaging (T1WI) lesion in comparsion to gray matter. However, the mechanism accounts for these lesions is still unclear.Methods:Patients diagnosed with NKHCB were recruited from 2002 to 2004. The demographic, clinical, magnetic resonance imaging (MRI), and spectroscopy (MRS) features were recorded at acute and remission phase.Results:In 18 patients with NKHCB, the blood sugar level at onset was significantly higher than that after being free from chorea-ballism (419.50 +/- 257.33 vs. 198.22 +/- 53.97 mg/dl, P = 0.001). The serum osmolality dropped from 318.33 +/- 15.21 mOsm/kg at onset to 292.50 +/- 7.85 mOsm/kg after recovery (P < 0.001). All patients displayed T1 hyperintense lesions at contralateral basal ganglia at acute phase. Eight patients receiving follow-up MRI at remission phase, all T1 hyperintense lesions at the basal ganglia regressed. The ratios between choline-containing compounds and creatine at acute and remission phases were significant higher in lesion than in normal side, respectively (acute phase: 1.12 +/- 0.23 vs. 0.72 +/- 0.28, P = 0.038; remission phase: 1.23 +/- 0.47 vs. 0.68 +/- 0.15, P = 0.013). The lactate peaks present at 1.3 ppm on the lesion side either in acute or in remission phase of most case.Conclusions:The clinical, MRI, and MRS findings suggest that the mechanisms responsible for NKHCB may be a reversible ischaemia insult potentiated by hyperglycemia.

BACKGROUND AND PURPOSE:To study the clinical characteristics of hypokalemic thyrotoxic periodic paralysis (hoTPP) and identify the predictors of recurrent paralytic attacks before achieving the euthyroid status.METHODS:We retrospectively analyzed 45 hoTPP patients who were admitted during the 7-year study period.RESULTS:A tendency towards male predominance was observed among the 45 patients (91.1%, 41/45). The mean onset age was 32.9 +/- 10.0 years (range: 16-54 years). No significant differences were observed in the onset age between male and female patients. Precipitating factors included rest/sleep at night, hot weather, upper respiratory tract infections (URIs), and excessive physical activities. Atypical weakness was observed in nine (20%, 9/45) patients. One patient initially diagnosed with sporadic periodic paralysis eventually developed hoTPP.DISCUSSION:In provocative tests, hypokalemia was not a consistent finding during paralytic attacks. Before achieving the euthyroid status, the rate of recurrent attacks was as high as 62.2%, and peaked in the first 3 months after hoTPP was diagnosed. Patients with URIs exhibited a higher incidence of recurrent paralytic attacks than those without (odds ratio = 13.00; 95% confidence interval = 1.08-156.08; P = 0.04).

Endoplasmic reticulum (ER) chaperone heat shock 70 kDa protein 5 (HSPA5/GRP78) is known to be involved in the metabolism of amyloid precursor protein and neuronal death in Alzheimer's disease (AD) could arise from dysfunction of the ER. Through a case-control study and an expression assay, we investigated the association of HSPA5 -415 G/A (rs391957), -370 C/T (rs17840761) and -180 del/G (rs3216733) polymorphisms with Taiwanese AD. The overall genotype and allele frequency distribution at the completely linked -415 G/A and -180 del/G sites showed significant difference between AD cases and controls (P = 0.020 and 0.009, respectively). A decrease in risk of developing AD was demonstrated for -415 AA/-180 GG genotype [OR = 0.38, 95% confidence interval (CI) = 0.18-0.75, P = 0.007] and -415 A/-180 G allele (OR = 0.69, 95% CI = 0.51-0.91, P = 0.009). The HSPA5 transcriptional activity of the -415 A/-180 G allele was significantly lower than that of the -415 G/-180 del alleles, whereas induction of HSPA5 expression after ER stress was markedly increased in the cells with the -415 A/-180 G allele. Therefore, our preliminary results may suggest a protective role of the HSPA5 -415 A/-180 G allele in Taiwanese AD susceptibility.

Background and purpose: This study examines whether angiotensin-converting enzyme (ACE) gene polymorphisms are associated with the risk of spontaneous deep intracerebral hemorrhage (SDICH) in Taiwan using a case-control study. Methods: Totally, 217 SDICH patients and 283 controls were recruited. Associations of ACE A-240T and ACE I/D polymorphisms with SDICH were examined under the additive model and adjusted for gender, age, body mass index, total cholesterol level, smoking history, alcohol use, hypertension, and use of ACE inhibitors. Results: Hypertension, diabetes mellitus, family history of spontaneous intracerebral hemorrhage (SICH), and low cholesterol level increase risk of female SDICH, whereas hypertension, alcohol use, smoking history, family history of SICH, and low cholesterol level are an important risk factor for male SDICH. After adjusting for covariates, only haplotype ACE T-D (OR = 2.7, 95% CI, 1.1-6.5, P = 0.02) was associated with female SDICH. Conclusions: This study demonstrates that environmental risk factors play a major role and ACE polymorphisms play a minor role in contributing risk of SDICH in Taiwan.

Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers. We tried to facilitate diagnosis of heterozygous Fabry patients by detailed clinical examination. We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family. Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients. Interestingly, all the males and females had corneal verticilata by slit lamp examination. However, there was no association of serum AGA activity with renal function or pain symptom scores. The results indicated that detailed ocular and neurological examination might provide an alternative way of detecting heterozygous patients. We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.

The incidence of dural carotid-cavernous sinus fistula (DCCF) presenting as isolated ocular motor nerve palsies without congestive ocular features is unknown. We reviewed the DCCF patients in our hospital during the last 10 years to elucidate the clinical and neuroradiological features of DCCF with isolated ocular motor nerve palsy. Eleven amongst the 33 DCCF patients presented isolated ocular motor nerve palsy. All the 11 patients underwent brain CT/CT angiography (CTA) and/or MRI/MR angiography (MRA), before the digital subtraction angiography (DSA). The compromised nerves were the oculomotor nerve in eight (72.7%), abducens nerve in two (18.2%) and trochlear nerve in one (9.1%). Brain CT and/or CTA were conducted in four patients but all unremarkable. MRI and/or MRA were performed in nine patients and six of them showed compatible findings of DCCF. The diagnoses of DCCFs were confirmed by DSA and all were posterior-draining type. The outcome was good, with a total recovery rate of 54.5% within 12 months. Thirty-three percent (11 of 33) of our DCCF patients presented with isolated ocular motor nerve palsy, which is not uncommon. MRI and MRA are of value in the initial evaluation, but DSA is necessary for the accurate diagnosis and treatment planning.

We retrospectively analyzed the patients with mitochondrial disorder based on muscle biopsy with ragged-red fibers by Gomori-trichrome stain, increased activity in NADH and SDH stains, and absent COX activity from January 1, 2000 to December 31, 2005. There were 76% of thirty-nine patients with male predominance who were diagnosed before the age of 5 (figure 1). The majority of patients were presented with developmental delay where the gut is the most frequently involved organ system (figure 2). This study describes clinical manifestations, laboratory findings, and prognosis of mitochondria myopathy in childhood living in Taiwan.

Objectives: Mitochondrial diseases represent a heterogeneous group of disorders with widely varying clinical features caused by structural and functional abnormalities in mitochondria. Our purpose was to evaluate the clinical characteristics, laboratory investigation of pediatric group with mitochondrial myopathies and cytopathies.

Disuse myopathy can be caused by many disorders. However, disuse myopathy with symmetrical weakness of the proximal muscles in the four limbs is rare. Here we report a 45-year-old man who presented with the appearance of myopathy similar to the clinical picture of limb-girdle syndrome with symmetrical weakness of proximal muscles in four limbs. A battery of intensive investigations confirmed that the patient had symmetric disuse myopathy induced by multiple avascular necroses of hip and shoulder joints. After the patient had received bilateral total hip replacement operations he had remarkable improvement in his muscle power in both lower limbs. This report highlights that some myopathies can be reversed if their underlying causes are correctable.

Lipoproteins and vascular factors may play roles in the development of Alzheimer’s disease (AD) and/or vascular dementia (VaD). In this study, odd ratios (ORs) and 95% confidence intervals (CIs) for apolipoprotein E (APOE), angiotensin-converting enzyme (ACE), and kallikrein (KLK1) polymorphisms were computed to test their association with the disease by a case-control study. The risk of AD was significantly increased for individuals with APOE ɛ4 allele (OR = 3.73, 95% CI = 2.38–5.98). The risk of AD was also significant for people with ACE DD genotype, D allele, or T-D haplotype [OR (95% CI) = 4.29 (1.96–10.23), 1.90 (1.35–2.70), or 2.91 (1.71–5.10), respectively]. The above association between ACE-VaD was also strong (p = 0.0012, 0.0050, 0.0007, respectively). Reporter constructs containing the −240 A or T allele displayed similar transcriptional activity in both HEK-293 and IMR-32 cells. Thus, another putative pathogenic marker that is linked with the Alu D allele might affect the risk of AD and VaD in Taiwan.

International Journal of Developmental NeuroscienceVolume 24, Issue 8 p. 585-586 Abstract [P209]: Investigation of the neurodegenerative impact of CAG expansion in TBP gene through transgenic mouse model H.M. Hsieh-Li, Corresponding Author H.M. Hsieh-Li n/[email protected] National Taiwan Normal University, TaiwanSearch for more papers by this authorC.Y. Lin, C.Y. Lin National Taiwan Normal University, TaiwanSearch for more papers by this authorL.S. RO, L.S. RO Chang Gung Memorial Hospital, TaiwanSearch for more papers by this authorC.M. Chen, C.M. Chen Chang Gung Memorial Hospital, TaiwanSearch for more papers by this authorG.J. Lee-Chen, G.J. Lee-Chen National Taiwan Normal University, TaiwanSearch for more papers by this author H.M. Hsieh-Li, Corresponding Author H.M. Hsieh-Li n/[email protected] National Taiwan Normal University, TaiwanSearch for more papers by this authorC.Y. Lin, C.Y. Lin National Taiwan Normal University, TaiwanSearch for more papers by this authorL.S. RO, L.S. RO Chang Gung Memorial Hospital, TaiwanSearch for more papers by this authorC.M. Chen, C.M. Chen Chang Gung Memorial Hospital, TaiwanSearch for more papers by this authorG.J. Lee-Chen, G.J. Lee-Chen National Taiwan Normal University, TaiwanSearch for more papers by this author First published: 16 November 2006 https://doi.org/10.1016/j.ijdevneu.2006.09.269Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume24, Issue8ABSTRACTS TO THE 16TH BIENNIAL MEETING OF THE INTERNATIONAL SOCIETY FOR DEVELOPMENTAL NEUROSCIENCE, 24‐28 AUGUST 2006, BANFF, CANADADecember 2006Pages 585-586 RelatedInformation

This study reviewed the clinical characteristics of multiple sclerosis (MS) in Taiwanese patients from 1993 to 2001. Of the 75 MS patients with a mean age of onset of 35.6 +/- 12.6 years, the female-to-male ratio was 4.4 (61/14). In 42 (56%) optico-spinal MS (OS-MS) patients, the age of onset (37.6 +/- 11.1 years) tended to be older than conventional MS (C-MS) patients (33.1 +/- 14.1 years, P = 0.08). In 60 cerebrospinal fluid (CSF) specimens, raised IgG index (>0.7) and oligoclonal bands were noted in 26 (43.3%) and two (3.3%) cases, respectively. The frequency of raised IgG index was lower in OS-MS (31.3%) than in C-MS (57.1%, P = 0.07). The CSF total protein concentrations were significantly higher in OS-MS (64.5 mg/dL) than in C-MS (46.6 mg/dL, P = 0.047). The mean annual relapse rate was 54.1%, and was significantly higher within the first year (59.7%, P < 0.001). The mean annual relapse rate in OS-MS (62.7%) was significantly higher than in C-MS (41.2%, P=0.01). The differences in the annual relapse rate and total protein concentration in CSF between OS-MS and C-MS suggest probably two distinct immunopathogenesis. The higher first year relapse rate of MS patients in Taiwan may address the importance of early intervention with immunomodulatory therapy.

Schizophrenia has a complex and non-Mendelian mode of inheritance. Recently, trinucleotide repeat (TNR)-containing genes have been considered as the candidate genes predisposing to schizophrenia. The purpose of this study was to determine whether a genetic association could be observed between schizophrenia and the TNR polymorphisms within the KLHL1AS/SCA8, PPP2R2B/SCA12, and TBP/SCA17 genes. We studied 100 unrelated schizophrenia patients and 124 controls without evident neurodegenerative or psychiatric disorders. The overall allele frequency distributions of the KLHL1AS/SCA8 and PPP2R2B/SCA12 genes were not significantly different between the schizophrenic patients and the control subjects (P>0.05). The allele frequency distribution in the schizophrenic patients was significantly different from that in the controls at the TBP/SCA17 gene (P=0.0149), with an increased frequency of 36 repeats in the patients and two patients carrying 45 TNR expansions were identified. TBP/SCA17 is the TATA box binding protein gene mapped to chromosome 6q27. The study suggests that TNR expansions of the TBP/SCA17 gene may contribute to the genetic risk of schizophrenia in rare cases.