Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan.

BACKGROUND/PURPOSE: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the Taiwanese population. The purpose of the study aimed to investigate early diagnosis and long-term prognosis of SBMA. METHODS: We retrospectively analyzed 21 genetically confirmed SBMA patients who visited our hospital between 1993 and 2010, focusing on clinical symptoms, nerve conduction studies, and functional disability. We also analyzed the relationship between length of cytosine-adenine-guanine (CAG) repeats and age of disease onset. RESULTS: Weakness developed at a mean age of 39 ± 7 years (mean ± standard deviation). The length of CAG repeats and age at onset of weakness showed inverse (but nonsignificant) correlation. The most common symptoms at initial presentation were hand tremor (86%), limb weakness (86%), and perioral fasciculation (76%). Creatine kinase (CK) was elevated in 17 out of 18 patients. Initial nerve conduction studies showed statistical difference from normal controls, especially decreased amplitudes of compound motor action potential (CMAP) and sensory nerve action potential (SNAP). Functional disability showed very slow progression, with only three patients becoming wheelchair-dependent during follow-up at a median age of 72 years. CONCLUSION: Patients with SBMA may present with a myriad of symptoms, including limbs weakness, tremor, muscle atrophy, and perioral fasciculations. Elevated serum CK and decreased CMAP and SNAP amplitudes were supportive laboratory findings of SBMA. Disease progression was gradual, and most patients remained functionally independent many years after the onset of weakness.

Cervicocranial fibromuscular dysplasia in Taiwanese ischemic stroke patients.

INTRODUCTION: Clinical research of cervicocranial fibromuscular dysplasia (FMD) is rare in Asian populations. Our study reviewed Taiwanese ischemic stroke patients with cervicocranial FMD and compared them with previous reports. METHODS: Between 2000 and 2011, we collected 19 consecutive cervicocranial FMD patients who received demographic registration, a blood test for excluding vasculitis, and comprehensive angiography. Cerebral ultrasound, vascular images and clinical outcomes (Barthel index, modified Rankin scale, recurrent stroke, or death) were monitored during follow-up. RESULTS: Of the 19 patients, 16 (84%) had carotid FMD, while 7 (37%) had vertebral FMD. Only 2 investigated patients (13%) had renal FMD and 1 (5%) had cerebral aneurysm. 14 (74%) presented acute arterial dissection. All patients received medical treatment and had neither recurrent stroke nor dissection during follow-up. In the literature review of 225 FMD patients, 3.6% had recurrent stroke during follow-up, and some reported surgical procedure or angioplasty could give a good clinical outcome in progressing ischemia irrelevant to the cause of stenosis. CONCLUSION: In Taiwanese cervicocranial FMD patients, arterial dissection was one of the most common clinical presentations. Most of our patients had isolated involvement of the cervicocranial artery and carried a favorable outcome under medical treatment.

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.

BACKGROUND/PURPOSE: Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Defects in the SPG4 and SPG3A genes are the two leading causes of HSPs with autosomal dominant inheritance (AD-HSPs). The purpose of this study was to investigate the clinical features and associated genetic mutations in Taiwanese families with AD-HSP. METHODS: Four kindreds with AD-HSP were recruited, and clinical data were collected from the affected individuals. Genetic studies were conducted in the following order: sequence analysis of the SPG4 gene (SPAST) exons, multiplex ligation-dependent probe amplification to detect genetic rearrangements in SPAST, and sequence analysis of the SPG3A gene exons. RESULTS: Four different SPAST mutations were detected, including a novel small deletion, a missense mutation, and two gross deletions involving exon 17. Although all symptomatic cases manifested as uncomplicated phenotypes, considerable intrakindred and interkindred variations in terms of age at onset, rate of progression, and severity of disease were observed. CONCLUSION: Mutation patterns and phenotypic expressivity are heterogeneous in Taiwanese patients with SPG4-related HSP. Genetic rearrangements could be a significant cause of SPG4-related HSP in the Taiwanese population. Assessment of the large deletions that could present in SPAST is warranted when direct sequencing is uninformative.

Common Neurological Disorders Involving Inpatient Liaisons at a Secondary Referral Hospital in Taiwan: A Retrospective Cross-Sectional Study.

BACKGROUND AND PURPOSE: The requirement for neurology liaison is increasing in accordance with the growing health care demands associated with aging populations. The aim of this study was to characterize the nature of neurological inpatient liaisons (NILs) to help plan for the appropriate use of neurology resources. METHODS: This was a retrospective cross-sectional study of NILs in a secondary referral hospital over a 12-month period. RESULTS: There were 853 neurological consultations with a liaison rate of 3% per admission case. Chest medicine, gastroenterology, and infectious disease were the three most frequent specialties requesting liaison, and altered consciousness, seizure, and stroke were the three most frequent disorders for which a NIL was requested. Infection was the most common cause of altered consciousness. Epilepsy, infection, and previous stroke were common causes of seizure disorders. Acute stroke accounted for 44% of all stroke disorders. Electroencephalography was the most recommended study, and was also the most frequently performed. Ninety-five percent of emergency consultations were completed within 2 hours, and 85% of regular consultations were completed within 24 hours. The consult-to-visit times for emergency and regular consultations were 44±47 minutes (mean±standard deviation) and 730±768 minutes, respectively, and were shorter for regular consultations at intensive care units (p=0.0151) and for seizure and stroke disorders (p=0.0032). CONCLUSIONS: Altered consciousness, seizure, and stroke were the most common reasons for NILs. Half of the patients had acute neurological diseases warranting immediate diagnosis and treatment by the consulting neurologists. Balancing increasing neurologist workloads and appropriate health-care resources remains a challenge.

Outbreak of multidrug-resistant tuberculosis in an aboriginal family in eastern Taiwan.

Spread of multidrug-resistant tuberculosis (MDR-TB) strains in the general population presents a serious threat to public health and severely threatens existing control efforts. Techniques such as spoligotyping and Mycobacterium interspersed repetitive units-variable-number tandem-repeat typing of mycobacterial isolates have been employed to confirm familial outbreaks of MDR-TB. We diagnosed and traced four MDR-TB cases in a family via genotyping. Despite aggressive treatment, the index case remained culture positive, but the other patients were cured. This is the first documentation of a familial MDR-TB outbreak affecting human immunodeficiency virus-seronegative patients in eastern Taiwan. Molecular techniques are important in the identification of sources of MDR-TB infections. The adult index case in our study developed MDR-TB due to poor compliance with the drug regimen (acquired resistance), followed by transmission of MDR-TB to his children in close household contact. This emphasizes the importance of an effective drug delivery program, such as directly observed treatment, to improve drug compliance and prevent the emergence of drug-resistant cases.