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Bing-Wen Soong,
Yen-Hua Huang,
Pei-Chien Tsai,
Chien-Chang Huang,
Hung-Chuan Pan,
Yi-Chun Lu,
Hsin-Ju Chien,
Tze-Tze Liu,
Ming-Hong Chang, Kon-Ping Lin,
Pang-Hsien Tu,
Lung-Sen Kao,
Yi-Chung Lee
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ABSTRACT: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in approximately 45 genes have been identified as being associated with CMT. Nevertheless, the genetic etiologies of at least 30% of CMTs have yet to be elucidated. Using a genome-wide linkage study, we previously mapped a dominant intermediate CMT to chromosomal region 3q28-q29. Subsequent exome sequencing of two affected first cousins revealed heterozygous mutation c.158G>A (p.Gly53Asp) in GNB4, encoding guanine-nucleotide-binding protein subunit beta-4 (Gβ(4)), to cosegregate with the CMT phenotype in the family. Further analysis of GNB4 in an additional 88 unrelated CMT individuals uncovered another de novo mutation, c.265A>G (p.Lys89Glu), in this gene in one individual. Immunohistochemistry studies revealed that Gβ(4) was abundant in the axons and Schwann cells of peripheral nerves and that expression of Gβ(4) was significantly reduced in the sural nerve of the two individuals carrying the c.158G>A (p.Gly53Asp) mutation. In vitro studies demonstrated that both the p.Gly53Asp and p.Lys89Glu altered proteins impaired bradykinin-induced G-protein-coupled-receptor (GPCR) signaling, which was facilitated by the wild-type Gβ(4). This study identifies GNB4 mutations as a cause of CMT and highlights the importance of Gβ(4)-related GPCR signaling in peripheral-nerve function in humans.
The American Journal of Human Genetics 02/2013; · 10.60 Impact Factor
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ABSTRACT: "Noxious stimulation over the foot can evoke a nociceptive flexor reflex (NR) in the lower limb especially for tibialis anterior muscle (TA). Components of NR include the monosynaptic fast latency NRII, and the polysynaptic slow latency NRIII, supposedly a spinal segmental reflex influenced by the supraspinal control. Pain perception is quantified by visual analogous scale (VAS) and has been reported to be related to NRIII. Previous papers have reported the long lasting effect of transcranial magnetic stimulation (TMS), as well as TMS suppressing pain perception. The purpose of this study was to investigate the immediate and prolonged effect of a single-pulse TMS to suppress NR and pain. NRIII was provoked at right TA by a train of electrical stimulation on the right toe in 10 healthy subjects. TMS was delivered over the vertex area to evoke right anterior tibialis muscle activity. A sham TMS from different directions of the coil was performed on the next day. The NRIII amplitude and VAS were measured. As a result, the amplitude of NRIII was significantly decreased than the control 50 ms pre-stimulation (0.20 ± 0.13 mA vs . 0.65 ± 0.42 mV, P = 0.016), 100 ms pre-stimulation (0.10 ± 0.10 mA vs . 0.65 ± 0.42 mV, P = 0.001), 15 min post-stimulation (0.12 ± 0.09 mA vs . 0.65 ± 0.42 mV, P = 0.004), and 30 min post-stimulation (0.41 ± 0.21 mA vs . 0.65 ± 0.42 mV, P = 0.046). VAS was diminished compared with the control 50 ms pre-stimulation (3.3 ± 0.9 vs . 5.4 ± 1.3, P = 0.002), 100 ms pre-stimulation (2.6 ± 0.5 vs . 5.4 ± 1.3, P < 0.001) and 15 min post-stimulation (3.5 ± 0.9 vs . 5.4 ± 1.3, P = 0.046). The NRIII amplitude was well correlated with VAS in reduction during the TMS condition and 15 min after electrical stimulation (P < 0.001). The sham TMS did not suppress NRIII or VAS. In conclusion, our results indicate that NRIII and the nociception can be inhibited by one single pulse TMS and such an effect can last for a period of time."
The Chinese journal of physiology 06/2012; 55(3):163-8. · 0.56 Impact Factor
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ABSTRACT: A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene was recently identified as an important cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Caucasian populations. The role of the C9ORF72 repeat expansion in ALS in Chinese populations has received little attention. We therefore performed mutation analyses in a Taiwanese cohort of 22 unrelated familial ALS (FALS) patients and 102 sporadic ALS patients of Han Chinese descent. The C9ORF72 mutation was found in 4 FALS (18.2%; 4/22) and 2 sporadic ALS patients (2.0%; 2/102). The C9ORF72 repeat numbers in the 300 healthy controls and the 118 ALS patients without the C9ORF72 mutation ranged from 3 to 15. Needle biopsy in the left frontal cortex of 1 patient with FALS-frontotemporal dementia revealed numerous cytoplasmic TAR DNA-binding protein 43 (TDP-43) inclusions and minimal neuritis, consistent with type B frontotemporal lobar degeneration with TDP-43 (FTLD-TDP) pathology. This study clearly demonstrates the existence and importance of the C9ORF72 hexanucleotide repeat expansion in a Taiwanese ALS cohort of Chinese origin, and supports the global presence of the C9ORF72 repeat expansion in ALS.
Neurobiology of aging 06/2012; 33(9):2232.e11-2232.e18. · 5.94 Impact Factor
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ABSTRACT: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common type of hereditary neuropathy. The demyelinating pathology of CMT1A results in significant nerve conduction slowing such that a nerve conduction study (NCS) is important in the clinical assessment of CMT1A. In this study, we analyzed and reported the electrophysiological features of a large Taiwanese cohort with CMT1A.
We retrospectively analyzed the NCS data of 106 Taiwanese patients with CMT1A. We also compared the electrophysiological parameters of the CMT1A patients with those of 20 patients with early-onset Charcot-Marie-Tooth disease type 1B (CMT1B).
The patients with CMT1A had a significant but variable degree of slowed nerve conduction. The median motor nerve conduction velocities (MNCVs) varied from 10.0 to 37.3 m/s in the entire CMT1A cohort but were more concordant in patients within a family (p<0.001). In each patient, the MNCVs among different nerves were concordant (p<0.001), and the MNCVs tended to remain steady longitudinally. Moreover, younger patients had a slower MNCV than older patients within the CMT1A population (p<0.001). The average median MNCV was significantly faster in the CMT1A patients than in the CMT1B patients (21.8±6.2 m/s and 16.3±3.6 m/s; p<0.001).
This study provides basic electrophysiological knowledge about CMT1A in Taiwan. The findings also suggest that the electrophysiological variability in the CMT1A cohort may be at least partially attributable to unknown genetic factors. These data emphasize the role of MNCV in the clinical assessment of CMT1A. A median or ulnar MNCV below 38 m/s can be a sensitive criterion for supporting the diagnosis of CMT1A. A median MNCV can sometimes help to distinguish CMT1A from CMT1B, and CMT1A should be considered in patients with median MNCVs near or above 24 m/s. Moreover, the MNCV may to some degree reflect the severity of CMT1A.
Journal of the Chinese Medical Association 05/2012; 75(5):197-202. · 0.79 Impact Factor
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ABSTRACT: We report the clinical and cellular phenotypes of two novel MPZ mutations associated with CMT1B.
The two families were evaluated clinically, electrophysiologically, and genetically. The wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular trafficking. Adhesion assay was also performed to evaluate the adhesiveness of cells.
The two novel heterozygous MPZ mutations, p.I135M and p.Q187PfsX63, are associated with a childhood-onset demyelinating polyneuropathy. The median motor nerve conduction velocities of the two index patients carrying each mutation were 12.9 and 13.6m/s, respectively. Fluorescence analysis demonstrated that the P(0) I135M protein was located on the cell membrane, but the P(0) Q187PfsX63 protein was retained ectopically in the endoplasmic reticulum and Golgi apparatus. Adhesion assay demonstrated a defective adhesiveness of cells expressing either mutant P(0) protein, and P(0) Q187PfsX63 had a more prominent defect of self-adhesive ability than P(0) I135M.
This study expanded the spectrum of the MPZ mutations and revealed two disparate mechanisms of MPZ mutations associated with a typical CMT1B phenotype. Other modifying genetic, epigenetic, or environmental factors on CMT1B may exist to explain the discrepancy between the cellular phenotypes.
Clinical neurology and neurosurgery 02/2012; 114(2):124-9. · 1.30 Impact Factor
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ABSTRACT: Mutations in the PRRT2 gene have recently been identified in patients with familial paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency and identities of PRRT2 mutations in a cohort of Taiwanese patients with PKD/IC.
We screened all 3 coding exons of PRRT2 for mutations in 28 Taiwanese patients with PKD/IC. Among them, 13 had familial PKD/IC and 15 were apparently sporadic cases. In total, 7 disparate mutations were identified in 13 patients, including 8 familial cases and 5 apparently sporadic cases. The mutations were not present in 500 healthy controls. Four mutations were novel. One patient had a missense mutation and all other patients carried PRRT2 mutations putatively resulting in a protein truncation. Haplotype analysis revealed that 5 of the 7 patients with the PRRT2 p.R217Pfs*8 mutation shared the same haplotype linked to the mutation.
PRRT2 mutations account for 61.5% (8 out of 13) of familial PKD/IC and 33.3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort. Most patients with the PRRT2 p.R217Pfs*8 mutation in Taiwan likely descend from a single common ancestor. This study expands the spectrum of PKD/IC-associated PRRT2 mutations, highlights the pathogenic role of PRRT2 mutations in PKD/IC, and suggests genetic heterogeneity within idiopathic PKD.
PLoS ONE 01/2012; 7(8):e38543. · 4.09 Impact Factor
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ABSTRACT: We quantitatively investigated the clinical severity and progression of diseases with ataxia, as measured with the Scale for the Assessment and Rating of Ataxia, and examined the potential application of the Scale for the Assessment and Rating of Ataxia for future therapeutic trials. Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, spinocerebellar ataxia type 17, multiple system atrophy-cerebellar variant, or Gerstman-Sträussler-Scheinker disease. Among them, 119 (50%) were longitudinally examined three to seven times, in a period of 8 to 38 months, resulting in a total set of 535 assessments. The differences between spinocerebellar ataxia and multiple system atrophy-cerebellar variant were ascertained cross-sectionally and longitudinally. Gerstman-Sträussler-Scheinker disease had the fastest progression, followed by multiple system atrophy-cerebellar variant, spinocerebellar ataxia type 17, spinocerebellar ataxia type 3, spinocerebellar ataxia type 2, and spinocerebellar ataxia type 6. Patients with multiple system atrophy-cerebellar variant had a faster progression in gait, sitting, speech, and total score than patients with spinocerebellar ataxias. For a randomized, case-control trial, a sample size of 47 for spinocerebellar ataxia and 85 for multiple system atrophy-cerebellar variant in the treatment or placebo arms would have a sufficient statistical power to demonstrate the efficacy of a new therapy that would retard ataxia progression by 1 point per year as measured by the Scale for the Assessment and Rating of Ataxia. The results will have a significant impact on the planning and implementation of future therapeutic trials of spinocerebellar ataxia and multiple system atrophy-cerebellar variant.
Movement Disorders 05/2011; 26(11):2081-7. · 4.51 Impact Factor
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ABSTRACT: The cause of familial amyotrophic lateral sclerosis (FALS) has been attributed to mutations in several genes. The authors analyzed these genes, including SOD1, FUS, VAPB, ANG, TDP-43, FIG4, and CHMP2B, in a cohort of 15 index patients of Han Chinese descent with adult-onset FALS. Seven different mutations in eight patients, including three in SOD1 (G85R, T137R, and G138E), two in exon 15 of FUS (H517D and R521H), and two in exon 6 of TARDBP (M337V and N378D) were identified. Among them, T137R SOD1, G138E SOD1, H517D FUS, and N378D TARDBP were novel. No mutation was found in VAPB, ANG, FIG4, or CHMP2B genes. Mutations in SOD1, FUS, and TARDBP account for 20%, 13.3%, and 20% of FALS, respectively. This study defined the distribution and frequency of mutations of FALS in a Taiwanese Han Chinese population, which not only broadens the spectrum of the mutations causing FALS, but also further highlights the importance of FUS and TARDBP in the pathogenesis of amyotrophic lateral sclerosis (ALS).
Neurobiology of aging 03/2011; 32(3):553.e13-21. · 5.94 Impact Factor
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ABSTRACT: Superficial siderosis is a rare disease with a low incidence of known etiologies and successful management in clinical practice. The presence of a fluid collection secondary to a dural tear has been reported in patients and is considered to be related to superficial siderosis. We report on a patient with superficial siderosis who had a multi-lobulated arachnoid cyst incarcerating the inner dural layer and showing rhythmic pulsations indicating the free connection with cerebrospinal fluid (CSF) circulation. Surgical removal of the arachnoid cyst and leakage repair halted the progression of clinical impairment and reduced epidural fluid collection shown by post-operative magnetic resonance myelogram. Based on the surgical and neuroimaging findings, especially the heavily T2-weighted MR myelogram, we propose a hypothesis, increased epidural pressure microtraumatizing the fragile internal venous plexus leading to recurrent microbleeding, to explain the formation of the superficial siderosis.
Medical Hypotheses 03/2011; 76(6):823-6. · 1.39 Impact Factor
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ABSTRACT: The corticospinal tract is not incriminated in decerebrate rigidity (DR). However, this has not yet been proven in humans. We applied transcranial magnetic stimulation (TMS) in a decerebrate patient to support the hypothesis. A patient suffering from pontine hemorrhage with the fourth ventricular extension was admitted unconscious and in a decerebrate posture. Five days later, she regained consciousness but remained in a decerebrate posture. Motor-evoked potentials (MEPs) to TMS were measured 1 week after she had regained consciousness, and this provoked muscle responses in her hands and feet bilaterally. During the follow-up, the patient's muscle tone became persistently flaccid, although her strength increased to varying degrees in different body and limb muscles. She remained bedridden for 3 years after the stroke and could neither turn on the bed by herself nor perform skilled movements using her hands. The findings of TMS confirmed the animal studies in that the mechanism of decerebrate rigidity did not come through a damage of the corticospinal pathway. This also implies that a preserved corticospinal tract function cannot guarantee a good motor recovery in a stroke patient.
Journal of the Chinese Medical Association 01/2011; 74(1):37-9. · 0.79 Impact Factor
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ABSTRACT: Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous group of inherited axonal neuropathies. The aim of this study was to extensively investigate the mutational spectrum of CMT2 in a cohort of patients of Han Chinese.
Genomic DNA from 36 unrelated Taiwanese CMT2 patients of Han Chinese descent was screened for mutations in the coding regions of the MFN2, RAB7, TRPV4, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, DNM2, AARS and YARS genes. Ten disparate mutations were identified in 14 patients (38.9% of the cohort), including p.N71Y in AARS (2.8%), p.T164A in HSPB1 (2.8%), and p.[H256R]+[R282H] in GDAP1 (2.8%) in one patient each, three NEFL mutations in six patients (16.7%) and four MFN2 mutations in five patients (13.9%). The following six mutations were novel: the individual AARS, HSPB1 and GDAP1 mutations and c.475-1G>T, p.L233V and p.E744M mutations in MFN2. An in vitro splicing assay revealed that the MFN2 c.475-1G>T mutation causes a 4 amino acid deletion (p.T159_Q162del). Despite an extensive survey, the genetic causes of CMT2 remained elusive in the remaining 22 CMT2 patients (61.1%).
This study illustrates the spectrum of CMT2 mutations in a Taiwanese CMT2 cohort and expands the number of CMT2-associated mutations. The relevance of the AARS and HSPB1 mutations in the pathogenesis of CMT2 is further highlighted. Moreover, the frequency of the NEFL mutations in this study cohort was unexpectedly high. Genetic testing for NEFL and MFN2 mutations should, therefore, be the first step in the molecular diagnosis of CMT2 in ethnic Chinese.
PLoS ONE 01/2011; 6(12):e29393. · 4.09 Impact Factor
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ABSTRACT: Transcranial magnetic stimulation (TMS) is a noninvasive method to assess brain physiology and plasticity. TMS has shown that nervous system excitability may be altered in myopathy, and it presents with motor disinhibition on cortical and subcortical levels. Eight patients who had colchicine myopathy were observed to have fatigue, but they did not have significant weakness. This study investigated whether there was central reorganization to compensate for their muscle strength.
TMS was applied to study the central compensative mechanism. The TMS parameters included motor evoked potentials, central conduction time, cortical silent period and intracortical inhibition of paired TMS paradigms.
TMS results did not show any significant differences between patient and control groups.
Although central reorganization may occur in patients with hereditary myopathy to compensate for muscular strength, our study did not find any change in cortical excitabilities in acquired myopathy due to colchicine. Muscle fatigue may precede weakness as an early symptom of myopathy.
Journal of the Chinese Medical Association 12/2010; 73(12):623-7. · 0.79 Impact Factor
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ABSTRACT: A family of dominant Charcot-Marie-Tooth disease with eleven members, six of them symptomatic, was characterized clinically and genetically. The ages at onset ranged from 10 to 45 years, and the clinical severity varied from no symptom to being wheelchair-bound. The median motor nerve conduction velocities ranged from 16.5 to 45.7 m/s. Men were more severely affected. The sural nerve biopsies in two patients featured demyelinating changes. No mutation in PMP22, MPZ, GJB1, NEFL, LITAF, EGR2, MFN2, HSP27, HSP22, GADP1, YARS, and DNM2 genes was found in the proband. Haplotype analyzes excluded linkage to the previously reported dominant CMT loci. A genomewide screen with 400 microsatellite markers and multipoint linkage analyzes revealed that the highest LOD score was around 1.6 on chromosome 3q28-q29, suggestive of a weak but possible linkage at this locus. The results of this study implicate the existence of a novel genetic locus for this syndrome.
Neuromuscular Disorders 08/2010; 20(8):534-9. · 2.80 Impact Factor
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ABSTRACT: Mutations in MPZ, which encodes myelin protein zero (P(0)), may lead to different subtypes of Charcot-Marie-Tooth disease (CMT). The aim of this study was to characterize the cellular manifestations of various MPZ mutations associated with CMT1, Dejerine-Sottas syndrome (DSS) and CMT2, and to correlate their cellular and clinical phenotypes. Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. Wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular localization. An adhesiveness assay was used to evaluate the adhesiveness of the transfected cells. Protein localization and cell adhesiveness of each mutant protein were compared and correlated with their clinical phenotypes. Three different intracellular localization patterns of the mutant P(0) were observed. Wild-type P(0), P(0)I30T, S44F, S63F, D75V, T124M, and R227S were mostly localized on the cell membrane, P(0)R98H, and R98C were found in the endoplasmic reticulum (ER) or Golgi apparatus, and P(0)S233fs formed aggregates within the ER. Cells expressing mutant P(0), as compared with those expressing wild-type P(0), demonstrated variable degrees of reduction in the cell adhesiveness. The molecular patho-mechanisms of MPZ mutations are likely very complex and the clinical phenotype must be influenced by many genetic or environmental factors. This complexity may contribute to the highly variable clinical manifestations resulting from different MPZ mutations.
Journal of Neurology 05/2010; 257(10):1661-8. · 3.47 Impact Factor
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ABSTRACT: Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effective disease-modifying treatment for CMT. Two potential effective therapeutic agents for CMT1A were investigated recently. One is ascorbic acid and another is neurotrophin-3 (NT-3), an important component of the Schwann cell autocrine survival loop. Early diagnosis can facilitate CMT patients to modify their life styles timely for minimizing nerve injury to delay or avoid disability. Molecular diagnosis of CMT can provide the basis for appropriate genetic counseling and further CMT research.
Acta neurologica Taiwanica 10/2008; 17(3):203-13.
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Shyue-Ru Chen, Kon-Ping Lin,
Hung-Chou Kuo,
Chiung-Mei Chen,
Sung-Tsang Hsieh,
Ming-Jen Lee,
Chih-Chao Yang,
Chin-San Liu,
Chin-Chang Huang,
Rong-Kuo Lyu,
Long-Sun Ro
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ABSTRACT: Current molecular diagnostic methods in detecting Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) diseases are either not sensitive or time-consuming and costing. The aims of this study are improving the accuracy and speeding up the diagnosis.
We developed real-time quantitative PCR (QPCR) and three polymorphic short tandem repeats (STRs) methods to test 53 unrelated CMT1A patients, 12 unrelated HNPP patients and 100 normal control subjects.
QPCR in detection of pmp22 gene duplication (CMT1A) and deletion (HNPP) showed a sensitivity of 100.00% (53/53) and 100.00% (12/12), respectively. And this method also showed a specificity of 100% (100/100) in CMT1A and 100% (100/100) in HNPP, respectively. In contrast, using three polymorphic STRs method showed a sensitivity of 50/53 (94%) in CMT1A and 12/12 (100.00%) of HNPP patients, respectively. And this method showed a specificity of 97% (100/103) in CMT1A and 100% (100/100) in HNPP, respectively.
QPCR and three STRs methods both demonstrate a rapid and robust diagnosis with almost complete informativeness. The high sensitivity and heterozygosity of these three polymorphic markers in detecting CMT1A/HNPP subjects of Caucasian and Chinese showed the potential to become pan-ethnic screening markers in the future.
Clinical Neurology and Neurosurgery 06/2008; 110(5):466-71. · 1.58 Impact Factor
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ABSTRACT: Transthyretin (TTR) variants of familial amyloid neuropathies (FAP) form a heterogenous group of autosomal dominantly inherited diseases. TTR gene analysis in several nationalities (Japanese, Portuguese, French, and British) has shown many distinguishing characteristics in the genotype-phenotype correlation. In Chinese, there are only a few reports of private TTR gene mutations belonging to single kindred.
We collected five patients with autosomal dominant inheritant sensorimotor polyneuropathy and tissue-proved amyloid deposition. The diagnosis of FAP was established on the mutation of the TTR gene detected by direct sequencing. Haplotype analysis was conducted in four of these patients.
These five FAP patients shared an identical missense mutation, Ala97Ser, in the TTR gene. This mutation presented with a constellation of late-onset polyneuropathy, preceding carpal tunnel syndrome, and outstanding autonomic dysfunction. Heart was the most frequently involved vital organ. Haplotype analysis hinted independent origins although the numbers were limited. Our study is the first case series gathering from the Chinese-Taiwanese population. We proposed a possible hot-spot mutation of the TTR gene, Ala97Ser, in this ethnic.
Journal of the Neurological Sciences 05/2008; 267(1-2):91-9. · 2.35 Impact Factor
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ABSTRACT: Botulinum toxin type A (BoNT-A) for the treatment of patients with various forms of migraine has been studied, but there is a paucity of data regarding the use of BoNT-A in Asian headache patients. Our study was designed to evaluate the efficacy of BoNT-A in the treatment of transformed migraine (TM) in a population of Taiwanese patients.
We retrospectively analyzed 30 patients who underwent BoNT-A treatment for TM from July 2003 to May 2004. Of 30 patients, 14 had palpable muscle tenderness (or tender points) in the pericranial region and 16 did not. All patients received injections into the corrugator, procerus, frontalis, and temporalis muscles (a total of 30 U), while a subset of TM patients with tender points (6 of 14 patients) also received injections to additional muscles based on a follow-the-tenderness approach (mean dose, 45 U).
Twenty-seven of the 30 patients (90%) surveyed reported effective relief of their symptoms with BoNT-A treatment (at least a 50% reduction in the number of headache days or in headache intensity). The greatest reduction in headache days per month and headache intensity was found in TM patients with tender points who received a mean dose of 45 U compared to those who received fixed-site dosing of 30 U.
Our results suggest that BoNT-A may be an effective prophylactic treatment for TM in Taiwanese patients. Interestingly, similar efficacy was demonstrated in TM patients with tender points compared to those without tender points when an additional dose of BoNT-A was injected into the tender muscles in the former.
Journal of the Chinese Medical Association 01/2008; 70(12):535-40. · 0.79 Impact Factor
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ABSTRACT: The ABCD1 gene mutation (previously ALD) has been reported in China, but not previously in Taiwan. This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy. Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first such detected in a Taiwanese patient. Previous studies have suggested exon 6 as a possible hot segment of ABCD1 gene mutations in Chinese populations; however, most of the mutations in exon 6 presented as childhood cerebral adrenoleukodystrophy. K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese.
Pediatric Neurology 06/2007; 36(5):348-50. · 1.52 Impact Factor
