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1.
Healthcare (Basel) ; 12(9)2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38727435

RESUMO

Parkinson's disease (PD) is a debilitating neurodegenerative disease with a relentlessly progressive course of illness. This study aimed to assess the dyadic dynamics of benefit finding (BF), demoralization, and stigma on the depression severity of PD patients and their caregivers. This study used a cross-sectional design with purposive sampling. In total, 120 PD patients and 120 caregivers were recruited from the neurological ward or neurological outpatient clinic of a medical center in Taiwan from October 2021 to September 2022. PD patients and their caregivers were enrolled and assessed using the Mini International Neuropsychiatric Interview, the Benefit Finding scale, Demoralization Scale, Stigma Subscale of the Explanatory Model Interview Catalogue, and Taiwanese Depression Questionnaire. Among the 120 patients and 120 caregivers that successfully completed the study, 41.7% (N = 50) and 60% (N = 72) were female, respectively. The most common psychiatric diagnoses of both the PD patients (17.5%) and their caregivers (13.3%) were depressive disorders. Using structural equation modeling, we found that the stigma, BF, and demoralization of PD patients might contribute to their depression severity. Demoralization and stigma of PD patients' caregivers might also contribute to the depression severity of PD patients. Caregivers' BF and demoralization were significantly linked with their depression severity. PD patients' BF degree and their caregivers' BF degree had significant interactive effects. Both patients' and their caregivers' stigma levels had significant interactive effects. Clinicians should be aware of and manage these contributing factors between PD patients and their caregivers in order to prevent them from exacerbating each other's depression.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38650104

RESUMO

OBJECTIVE: IRF2BPL mutation has been associated with a rare neurodevelopmental disorder with abnormal movements, including dystonia. However, the role of IRF2BPL in dystonia remains elusive. We aimed to investigate IRF2BPL mutations in a Taiwanese dystonia cohort. METHODS: A total of 300 unrelated patients with molecularly unassigned isolated (n = 256) or combined dystonia (n = 44) were enrolled between January 2015 and July 2023. The IRF2BPL variants were analyzed based on whole exome sequencing. The in silico prediction of the identified potential pathogenic variant was performed to predict its pathogenicity. We also compared the clinical and genetic features to previous literature reports. RESULTS: We identified one adolescent patient carrying a de novo heterozygous pathogenic variant of IRF2BPL, c.379C>T (p.Gln127Ter), who presented with generalized dystonia, developmental regression, and epilepsy (0.33% of our dystonia cohort). This variant resides within the polyglutamine (poly Q) domain before the first PEST sequence block of the IRF2BPL protein, remarkably truncating the protein structure. Combined with other patients with IRF2BPL mutations in the literature (n = 60), patients with variants in the poly Q domain have a higher rate of nonsense mutations (p < 0.001) and epilepsy (p = 0.008) than patients with variants in other domains. Furthermore, as our index patient, carriers with substitutions before the first PEST sequence block have significantly older age of onset (p < 0.01) and higher non-epilepsy symptoms, including generalized dystonia (p = 0.003), and ataxia (p = 0.003). INTERPRETATION: IRF2BPL mutation is a rare cause of dystonia in our population. Mutations in different domains of IRF2BPL exhibit different phenotypes.

3.
Eur J Neurol ; 30(10): 3098-3104, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37422850

RESUMO

BACKGROUND AND PURPOSE: Dystonia is a heterogeneous movement disorder, and it remains unclear whether neurodegeneration is involved. Neurofilament light chain (NfL) is a biosignature of neurodegeneration. We aimed to investigate whether plasma NfL levels were elevated and associated with disease severity in patients with dystonia. METHOD: We enrolled 231 unrelated dystonia patients (isolated dystonia n = 203; combined dystonia n = 28) and 54 healthy controls from movement disorder clinics. Clinical severity was evaluated using the Fahn Marsden Dystonia Rating Scale, the Unified Dystonia Rating Scale, and the Global Dystonia Rating Scale. Blood NfL levels were measured by single-molecule array. RESULTS: Plasma NfL levels were significantly higher in those with generalized dystonia compared to those with focal dystonia (20.1 ± 8.8 vs. 11.7 ± 7.2 pg/mL; p = 0.01) or controls (p < 0.01), while the level was comparable between the focal dystonia group and controls (p = 0.08). Furthermore, the dystonia combined with parkinsonism group had higher NfL levels than the isolated dystonia group (17.4 ± 6.2 vs. 13.5 ± 7.5 pg/mL; p = 0.04). Notably, whole-exome sequencing was performed in 79 patients and two patients were identified as having likely pathogenic variants: one had a heterozygous c.122G>A (p.R41H) variant in THAP1 (DYT6) and the other carried a c.1825G>A (p.D609N) substitution in ATP1A3 (DYT12). No significant correlation was found between plasma NfL levels and dystonia rating scores. CONCLUSION: Plasma NfL levels are elevated in patients with generalized dystonia and dystonia combined with parkinsonism, suggesting that neurodegeneration is involved in the disease process of this subgroup of patients.


Assuntos
Distonia , Distúrbios Distônicos , Transtornos dos Movimentos , Humanos , Filamentos Intermediários , Proteínas de Neurofilamentos , Biomarcadores , Proteínas de Ligação a DNA , Proteínas Reguladoras de Apoptose , ATPase Trocadora de Sódio-Potássio
4.
Clin Psychopharmacol Neurosci ; 21(3): 488-498, 2023 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-37424417

RESUMO

Objective: Tardive syndrome (TS) is an umbrella term used to describe a group of abnormal movement disorders caused by chronic exposure to dopamine receptor blocking agents. Few follow-up studies have been performed on the outcome of TS in patients using antipsychotics. The purpose of our study was to investigate the prevalence, incidence, remission rate, and factors associated with remission in patients using antipsychotics. Methods: This retrospective cohort study consisted of 123 patients who received continuous treatment of antipsychotics in a medical center in Taiwan, from April 1, 2011 to May 31, 2021. We assessed the demographic and clinical characteristics, prevalence, incidence, remission rate, and factors associated with remission in patients using antipsychotics. TS remission was defined as a Visual Analogue Scale score ≤ 3. Results: Of the 92 patients who completed the 10-year follow-up, 39 (42.4%) were found to have at least one episode of TS, with tardive dyskinesia (TD) being the most prevalent subtype (51.3%). With regard to concurrent physical illness, a history of extrapyramidal symptoms were significant risk factors for TS. During the 10-year follow-up period, the remission rate of TS was 74.3%. The use of antioxidants including vitamin B6 and piracetam was related to the remission of TS. Patients with tardive dystonia had a higher remission rate (87.5%) compared to TD (70%). Conclusion: Our study suggests that TS may be a treatable condition, and the key to a better outcome is early detection and prompt intervention, including closely monitoring antipsychotics-related TS symptoms and using antioxidants.

5.
World J Psychiatry ; 13(3): 126-130, 2023 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-37033893

RESUMO

BACKGROUND: Tardive sensory syndrome (TSS) is a subtype of tardive syndrome (TS), and its etiology is still uncertain. Lurasidone is an atypical antipsychotic that has high affinity for dopamine D2- and serotonergic 5HT2A- and 5-HT7-receptors. CASE SUMMARY: A 52-year-old woman, previously diagnosed with schizophrenia, and with no history of movement disorders and no sensory paresthesia, had taken lurasidone, initiate dose 40 mg daily then up titration to 120 mg daily, since March 2021, and developed mandibular sensory (pain) paresthesia after 3 mo of administration. After switching from lurasidone to quetiapine, she reported obvious impr-ovement in her mandibular pain. CONCLUSION: It is noteworthy that TSS is a rare subtype of TS, and lurasidone, an atypical antipsychotic, usually has a lower risk of causing TS. In light of the temporal relationship, it is therefore concluded that use of lurasidone might have caused TSS in this patient. We reported this rare case as a reminder that clinicians should adopt a cautious approach when prescribing atypical antipsychotics, so as to prevent TS.

6.
J Mov Disord ; 16(2): 115-132, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36872858

RESUMO

Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

7.
J Clin Neurol ; 19(1): 52-59, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36606646

RESUMO

BACKGROUND AND PURPOSE: Oral nucleos(t)ide analogs (NAs) are the mainstay treatment for chronic hepatitis B (CHB). Myotoxicity is an important extrahepatic effect related to NA treatment. Telbivudine is the NA for CHB that is frequently associated with muscle-related side effects. The risk factors for telbivudine-induced myopathy (TIM) are not yet clear. METHODS: This study characterized the clinical, magnetic resonance images (MRI), and pathological features of 12 TIM cases. A group of telbivudine-tolerant (TT) patients with CHB who received regular telbivudine treatment during the same period without the occurrence of myopathy was collected. Demographic and clinical factors were compared between the patients with TIM and the TT controls. Factors independently associated with TIM were identified using logistic regression analysis. RESULTS: The patients with TIM (males/females: 7/5, mean age: 57 years) developed myopathy after using telbivudine for a median period of 19.5 months. Muscle histopathology revealed abnormal proliferation, subsarcolemmal or sarcoplasmic accumulations, and ultrastructural defects of mitochondria. When compared with TT cases, patients with TIM had a lower estimated glomerular filtration rate and were more frequently positive for hepatitis B e antigen (HBeAg). CONCLUSIONS: Mitochondrial abnormalities are characteristic histopathological features, and impaired renal function and HBeAg positivity are risk factors for TIM. Telbivudine-induced mitochondrial dysfunction and immune activation related to mitochondrial damage and HBeAg serostatus changes may underlie TIM. Constant clinical surveillance of myopathy during telbivudine treatment is needed due to the significant latency of its development. Dose adjustment for impaired renal function does not eliminate the risk of TIM occurrence.

8.
Brain Behav ; 13(2): e2884, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36635882

RESUMO

OBJECTIVES: The classic triad of idiopathic normal pressure hydrocephalus (NPH) encompass gait disturbance, cognitive impairment, and urinary incontinence. These symptoms overlap with parkinsonism but with distinct treatment. Lacking applicable differentiation also hampers the prediction to therapeutic response. Here, we try to clarify this issue among different Parkinsonian syndromes and propose some innovative thinking while approaching a patient with parkinsonism and hydrocephalus concomitantly. METHODS: Twenty-four patients with clinical probable multiple system atrophy (MSA), 34 with probable progressive supranuclear palsy (PSP), and 58 with sex- and age-matched Parkinson's disease (PD) were enrolled. Evans' index (EI), callosal angle (CA), antero-posterior (AP) diameter of the midbrain, length of the midbrain tegmentum diameter (MBTegm ), and disproportionately enlarged subarachnoid space hydrocephalus (DESH) were evaluated using the conventional MRI. Logistic regression was applied to identify the independent variables in hydrocephalus. RESULTS: Patients with PSP had higher mean EI than those with MSA and PD. Around 38.2% of patients with PSP had accompanied hydrocephalus (EI > 0.3). Parkinsonism subtypes (PD, MSA, or PSP), AP diameter of the midbrain, and MBTegm were significantly different among patients with and without hydrocephalus. After regression analysis, parkinsonism subtype stood out to be the most key risk factor of hydrocephalus. The comparison between patients with PSP with and without hydrocephalus did not disclose specific clinical characteristics or risk factors. CONCLUSIONS: This study demonstrates that the presence of NPH-like MRI features is much higher in PSP patients, and this tendency is decided upon the determination of parkinsonism subtype. Sharing pathophysiological characteristics in these two diseases is implied. More diagnostic tools are needed to better differentiate the two diseases and decide the treatment. To closely observe hydrocephalic parkinsonism patients and well inform the possible limited shunting benefits if PSP core features appear, will be more pivotal and practical at present clinical practice.


Assuntos
Hidrocefalia de Pressão Normal , Atrofia de Múltiplos Sistemas , Doença de Parkinson , Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva , Humanos , Paralisia Supranuclear Progressiva/complicações , Hidrocefalia de Pressão Normal/diagnóstico por imagem , Prevalência , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/complicações , Doença de Parkinson/complicações , Atrofia de Múltiplos Sistemas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos
9.
Parkinsonism Relat Disord ; 107: 105294, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36657279

RESUMO

The inosine monophosphate dehydrogenase gene (IMPDH2) was recently reported as a novel gene associated with autosomal dominantly inherited dystonia. We investigated 245 Taiwanese patients with molecularly unassigned isolated or combined dystonia without features of neurodevelopmental disorders and found none had pathogenic variants. Our findings suggest that IMPDH2 may not play a major role in dystonia.


Assuntos
Distonia , Humanos , Distonia/genética , Povo Asiático/genética , IMP Desidrogenase/genética
10.
Front Neurol ; 13: 1005670, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36247768

RESUMO

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders clinically characterized by progressive lower-limb spasticity. Cerebellar ataxia commonly co-occurs with complicated HSPs. HSP with concurrent cerebellar ataxia has significant clinical and genetic overlaps with hereditary cerebellar ataxia (HCA) and other inherited neurological diseases, adding to the challenge of planning genetic testing for the disease. In this study, we characterized clinical features of a cohort of 24 patients (male/female: 15/9) from 22 families who presented spastic paraparesis combined with cerebellar involvement, with a median disease onset age 20.5 (range 5-53) years. Aside from the core phenotype, 18 (75%) patients had additional neuropsychiatric and systemic manifestations. A stepwise genetic testing strategy stratified by mode of inheritance, distinct neuroimaging features (e.g., thin corpus callosum), population-specific prevalence and whole-exome sequencing was utilized to investigate the genetic etiology. Causative mutations in up to 10 genes traditionally related to HSP, HCA and other neurogenetic diseases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, neurodegeneration with brain iron accumulation, and progressive encephalopathy with brain atrophy and thin corpus callosum) were detected in 16 (73%) of the 22 pedigrees. Our study revealed the genetic complexity of HSP combined with cerebellar involvement. In contrast to the marked genetic diversity, the functions of the causative genes are restricted to a limited number of physiological themes. The functional overlap might reflect common underlying pathogenic mechanisms, to which the corticospinal tract and cerebellar neuron circuits may be especially vulnerable.

11.
Healthcare (Basel) ; 10(7)2022 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-35885832

RESUMO

Depression is a common comorbidity in patients with Parkinson's disease (PD) and in their caregivers. This study aimed to compare the prevalence and risk factors of depression between patients with PD and their caregivers. In total, 113 patients with PD and 101 caregivers were enrolled. Patients with PD were assessed using the Mini International Neuropsychiatric Interview, Unified Parkinson's Disease Rating Scale (UPDRS), Activities of Daily Living (ADL), Hospital Anxiety and Depression Scale, Beck Hopelessness Scale, Brief Fatigue Inventory, Connor-Davidson Resilience Scale, and Big Five Inventory-10. Caregivers of patients with PD were also assessed using the above-mentioned instruments, with the exception of the UPDRS and ADL. During a 12-month follow-up period, depressive disorders were the most common psychiatric diagnosis of PD patients (27.4%) and their caregivers (17.8%). Depressive disorders were more prevalent in PD patients than in caregivers of PD patients throughout the entire follow-up phase. The severity of fatigue and severity of suicide risk were significantly associated with depression among patients with PD. The severity of pain and severity of anxiety were predictors of depression in caregivers of PD patients. The findings in this study provide references for early detection and treatment of depressive disorders in PD patients and their caregivers.

12.
J Nerv Ment Dis ; 210(10): 777-783, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-35687726

RESUMO

ABSTRACT: Parkinson's disease (PD) is a progressive, neurodegenerative disorder and is commonly comorbid with depression. The aim of this cross-sectional study was to assess morbidity and associated factors of depression in patients with PD. In total, 181 patients with PD were enrolled and assessed using the Mini-International Neuropsychiatric Interview. Of the sample, 51% had at least one psychiatric diagnosis. The most prevalent psychiatric disorder was depressive disorder (27.6%), followed by rapid eye movement sleep behavior disorder (9.9%), insomnia disorder (8.8%), and adjustment disorder (2.8%). Severity of anxiety, suicide risk, and anxiolytics/hypnotics use were factors associated with depressive disorder in PD patients. Furthermore, severity of anxiety was significantly linked with suicide risk. We suggest that use of a standardized structured interview for early detection of depression in PD patients is crucial. Anxiety, anxiolytics/hypnotics use, depression, and suicide risks are interrelated and warrant clinical concerns regarding PD patients.


Assuntos
Ansiolíticos , Transtorno Depressivo , Doença de Parkinson , Estudos Transversais , Transtorno Depressivo/epidemiologia , Transtorno Depressivo/etiologia , Humanos , Hipnóticos e Sedativos , Morbidade , Doença de Parkinson/complicações , Doença de Parkinson/epidemiologia
13.
J Mol Diagn ; 24(3): 262-273, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35041927

RESUMO

Dystonia is a clinically and genetically heterogeneous movement disorder. However, genetic causes of dystonia remain largely unknown in Asian subjects. To address this, we applied an integrated two-step approach that included gene dosage analysis and a next-generation sequencing panel containing 72 known genes causative for dystonia and related movement disorders to 318 Taiwanese patients with isolated or combined dystonia. Whole-genome sequencing was performed for one multiplex family with no known causative variant. The panel confirmed the genetic diagnosis in 40 probands (12.6%). A genetic diagnosis was more likely with juvenile onset compared with adult onset (24.2% vs 10.8%; P = 0.03) and those with combined features, especially with myoclonus, compared with isolated dystonia (35.3% vs 10.5%; P = 0.004). The most common causative genes were SGCE followed by GCH1, TH, CACNA1B, PRRT2, MR1, CIZ1, PLA2G6, and PRKN. Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C19orf12, and SPG11. The whole-genome sequencing analysis identified a novel intragenic deletion in OPHN1 in a multiplex family with X-linked dystonia and intellectual delay. Our findings delineate the genetic architecture and clinical spectrum of dystonia-causing pathogenic variants in an Asian population.


Assuntos
Distonia , Distúrbios Distônicos , Paraplegia Espástica Hereditária , Adulto , Anoctaminas , Proteínas Reguladoras de Apoptose/genética , Proteínas de Ligação a DNA/genética , Distonia/diagnóstico , Distonia/genética , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/genética , Humanos , Proteínas Mitocondriais , Chaperonas Moleculares/genética , Mutação , Proteínas Nucleares/genética , Proteínas , ATPase Trocadora de Sódio-Potássio/genética , Taiwan , Tubulina (Proteína) , Sequenciamento Completo do Genoma
14.
J Formos Med Assoc ; 121(1 Pt 2): 375-380, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34092466

RESUMO

BACKGROUND/PURPOSE: A heterozygous three-nucleotide (GAG) in-frame deletion in the TOR1A gene causes the rare disease, dystonia (DYT1), which typically presents as focal limb dystonia during adolescence, then spreads to other limbs. This study investigated the frequency and clinical features of DYT1 in a Taiwanese dystonia cohort. METHODS: We performed targeted next generation sequencing in 318 patients with primary dystonia. We identified one DYT1 family with various types of dystonia, and we described the clinical presentations observed in this family during a 30-year follow-up. We compared the clinical characteristics to those reported in previous studies on DYT1 from 2000 to 2020. RESULTS: Among 318 patients, we identified only one DYT1 patient (0.3%) with an autosomal dominant family history of dystonia. The proband was a 43-year-old man that experienced progressive onset of focal lower limb dystonia from age 11 years. The disease spread caudal-rostrally to the upper limbs and cervical muscles. Prominent cervical dystonia was noted during follow-up, which was an atypical presentation of DYT1. Clinical assessments of other family members showed intrafamily variability. The proband's father and an affected sibling demonstrated only mild right-hand writer's cramp. A systematic review of previously reported DTY1 cases showed that Asian patients had a higher frequency of cervical dystonia (44.8%) than groups of Ashkenazi Jews (35%) and Non-Jewish Caucasians (30.5%) (P = 0.04). CONCLUSION: Our findings revealed that DYT1 is rare in a Taiwanese dystonia cohort. The presentation of marked cervical dystonia could be the main feature of Asian patients with DYT1.


Assuntos
Distúrbios Distônicos , Doenças Genéticas Ligadas ao Cromossomo X , Adulto , Criança , Distúrbios Distônicos/genética , Humanos , Masculino , Chaperonas Moleculares/genética , Taiwan
15.
J Neuroeng Rehabil ; 18(1): 109, 2021 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-34215283

RESUMO

BACKGROUND: Patients with Parkinson's disease (PD) can develop impulse control disorders (ICDs) while undergoing a pharmacological treatment for motor control dysfunctions with a dopamine agonist (DA). Conventional clinical interviews or questionnaires can be biased and may not accurately diagnose at the early stage. A wearable electroencephalogram (EEG)-sensing headset paired with an examination procedure can be a potential user-friendly method to explore ICD-related signatures that can detect its early signs and progression by reflecting brain activity. METHODS: A stereotypical Go/NoGo test that targets impulse inhibition was performed on 59 individuals, including healthy controls, patients with PD, and patients with PD diagnosed by ICDs. We conducted two Go/NoGo sessions before and after the DA-pharmacological treatment for the PD and ICD groups. A low-cost LEGO-like EEG headset was used to record concurrent EEG signals. Then, we used the event-related potential (ERP) analytical framework to explore ICD-related EEG abnormalities after DA treatment. RESULTS: After the DA treatment, only the ICD-diagnosed PD patients made more behavioral errors and tended to exhibit the deterioration for the NoGo N2 and P3 peak amplitudes at fronto-central electrodes in contrast to the HC and PD groups. Particularly, the extent of the diminished NoGo-N2 amplitude was prone to be modulated by the ICD scores at Fz with marginal statistical significance (r = - 0.34, p = 0.07). CONCLUSIONS: The low-cost LEGO-like EEG headset successfully captured ERP waveforms and objectively assessed ICD in patients with PD undergoing DA treatment. This objective neuro-evidence could provide complementary information to conventional clinical scales used to diagnose ICD adverse effects.


Assuntos
Transtornos Disruptivos, de Controle do Impulso e da Conduta , Doença de Parkinson , Transtornos Disruptivos, de Controle do Impulso e da Conduta/diagnóstico , Transtornos Disruptivos, de Controle do Impulso e da Conduta/etiologia , Eletroencefalografia , Potenciais Evocados , Estudos de Viabilidade , Humanos , Doença de Parkinson/complicações
16.
Parkinsonism Relat Disord ; 87: 87-91, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34015694

RESUMO

AIM: To investigate the clinical and genetic features of hereditary spastic paraplegia (HSP) type 3A (SPG3A) in Taiwan. METHODS: Mutational analysis of the ATL1 gene was performed for 274 unrelated Taiwanese HSP patients. The diagnosis of SPG3A was ascertained by the presence of a heterozygous pathogenic mutation in ATL1. The SPG3A patients received clinical, electrophysiological, and neuroimaging evaluations. Disease severity was assessed by using Spastic Paraplegia Rating Scale (SPRS) and disability score. Nineteen single nucleotide polymorphism (SNP) markers flanking ATL1 were genotyped for haplotype analysis of ATL1 p.R416C mutation. RESULTS: Eighteen SPG3A patients from 11 families were identified. They typically presented a pure form HSP phenotype with disease onset ranging from age 1-68 years. Five heterozygous ATL1 mutations were identified, including p.R239C, p.V253I, p.Y336H, p.P342R and p.R416C. ATL1 p.R416C was the most common mutation and presented in five SPG3A pedigrees. Haplotype analyses demonstrated a shared haplotype in the 12 individuals carrying a p.R416C allele. CONCLUSION: SPG3A accounts for 4% (11 out of 274) of HSP in the Taiwanese cohort. Patents with the ATL1 p.R416C mutation in Taiwan may descend from a common ancestor. This study defines the clinical and genetic features of SPG3A in Taiwan and provides useful information for the diagnosis and management, especially in patients of Han Chinese descent.


Assuntos
Proteínas de Ligação ao GTP/genética , Proteínas de Membrana/genética , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/fisiopatologia , Adolescente , Adulto , Idoso , Criança , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Efeito Fundador , Humanos , Masculino , Pessoa de Meia-Idade , Paraplegia Espástica Hereditária/epidemiologia , Taiwan/epidemiologia , Adulto Jovem
17.
World Neurosurg ; 154: e1-e6, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33722720

RESUMO

BACKGROUND: Microelectrode recording (MER)-guided deep brain stimulation (DBS) remains the standard electrophysiological procedure to place the DBS lead at the optimal target. When single-track MER or test stimulation yields suboptimal results, trajectory adjustments are needed. Intraoperative computed tomography (iCT) can be useful to visualize the microelectrode and verify possible adjustments. The aim of this study was to evaluate the effect of iCT in MER during frameless stereotactic DBS for Parkinson disease (PD). METHODS: We retrospectively collected 28 PD patients, of whom 19 received iCT and 9 did not, and measured intracranial volume, cerebral volume, cerebrospinal fluid volume, and pneumocephalus volume. Euclidean distance was assessed according to merged preoperative brain CT and magnetic resonance imaging and postoperative brain CT. RESULTS: Fifty-six hemispheres in the 28 patients were analyzed for MER tracks. The patients who received iCT had a significantly lower mean number of MER tracks (1.6 vs. 2.6, P = 0.013) and lower mean Euclidean distance (2.2 mm vs. 2.7 mm, P = 0.033) compared with those who did not receive iCT. Although there was a trend of a decrease in pneumocephalus using intraoperative imaging, there was no significant difference in surgical time. CONCLUSIONS: iCT can reduce the number of MER tracks and increase surgical accuracy. Further studies are warranted to investigate whether iCT can reduce surgical complications and improve surgical outcomes.


Assuntos
Estimulação Encefálica Profunda/métodos , Monitorização Neurofisiológica Intraoperatória/métodos , Microeletrodos , Neuronavegação , Procedimentos Neurocirúrgicos/métodos , Doença de Parkinson/cirurgia , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Eletrodos Implantados , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Radiologia Intervencionista , Estudos Retrospectivos , Núcleo Subtalâmico
18.
Sci Rep ; 11(1): 957, 2021 01 13.
Artigo em Inglês | MEDLINE | ID: mdl-33441640

RESUMO

Parkinson's disease (PD) is an incapacitating neurodegenerative disease. Patients with PD and their caregivers may have interactive effects on each other's psychological well-being. This study aimed to assess the dyadic dynamics of resilience, fatigue, and suicidal ideation on the depression severity of PD patients and their caregivers. In total, 175 PD patients and 175 caregivers were recruited at a medical center from August 2018 to May 2020. Structural equation modeling (SEM) was used to examine the actor/partner effects on the psychological well-being of both the PD patients and their caregivers. The most common psychiatric diagnoses of both the PD patients (28.6%) and their caregivers (11.4%) were depressive disorders. The PD patients' and their caregivers' fatigue, suicidal ideation, and lack of resilience were significantly associated with the severity of their depression, respectively. Interactive effects existed between psychological well-being of individuals with PD and their caregivers. Clinicians must be aware of, and manage, these contributing factors between PD patients and their caregivers in order to prevent them from worsening each other's depression.


Assuntos
Cuidadores/psicologia , Doença de Parkinson/psicologia , Idoso , Depressão/psicologia , Fadiga/psicologia , Feminino , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Ideação Suicida
19.
Auton Neurosci ; 238: 102928, 2021 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-35021146

RESUMO

BACKGROUND: Peripheral neuropathy is not an uncommon manifestation in patients with chronic hepatitis. The role of cryoglobulin (CG) in neuropathy in patients with chronic hepatitis remains controversial. There is limited information about the autonomic neuropathy in chronic hepatitis. This study aimed to evaluate autonomic function in treatment-naive patients with chronic hepatitis B or hepatitis C infection and to elucidate the association between autonomic neuropathy and CG in these patients. METHODS: A total of 29 treatment-naive patients with chronic, yet mild degrees of hepatitis B or C infection were evaluated for autonomic function, including those in the sympathetic sudomotor, cardiovagal, and adrenergic domains, to compare with the control subjects. The autonomic impairment was graded using the Composite Autonomic Scoring Scale. Then, association analyses between autonomic parameters/scores and CG were performed. RESULTS: Patients with chronic hepatitis B or C infection had significantly worse autonomic function than control subjects, especially in the sudomotor and cardiovagal domains. The autonomic manifestations in cases with and without CG were similar. There was no significant difference in autonomic dysfunction between patients with hepatitis B and C infections. CONCLUSION: The study demonstrated that autonomic neuropathy was not uncommon in patients with chronic hepatitis B or C infection. There was no association between autonomic neuropathy and CG.

20.
J Geriatr Psychiatry Neurol ; 34(5): 418-425, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-32588710

RESUMO

OBJECTIVE: Parkinson disease (PD) is a debilitating neurodegenerative disease. Caring for an individual with PD can have a variety of negative physical and psychological effects on caregivers which may challenge their ability to continue in their caretaking role. The aim of this study was to assess the prevalence and associated factors of depressive disorders in caregivers of individuals with PD using standardized instruments. METHODS: This study used a cross-sectional design with consecutive sampling. Study participants were recruited from the neurological ward or neurological outpatient clinic of a medical center from August 2018 to July 2019. Caregivers of persons with PD were enrolled and assessed using the Mini International Neuropsychiatric Interview, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Beck Hopelessness Scale, Brief Fatigue Inventory, Connor-Davidson Resilience Scale, and Big Five Inventory-10. RESULTS: Of the 162 caregivers that completed the study, 67.3% (n = 109) were females. The most common psychiatric diagnosis was depressive disorder (11.1%), followed by insomnia disorder (7.4%) and anxiety disorder not otherwise specified (4.3%); 28% of the caregivers had a psychiatric diagnosis. Using logistic regression analysis, it was found that duration of caregiving (odds ratio [OR] = 1.28; 95% CI, 1.05-1.58), severity of anxiety (OR = 1.86; 95% CI, 1.36-2.53), and severity of fatigue (OR = 1.08; 95% CI, 1.01-1.16) were 3 significant associated factors for the development of depression. CONCLUSION: Depression was the most prevalent psychiatric diagnosis in caregivers of people with PD. Early diagnosis of these caregivers is crucial to the offering of suitable support and treatment and might improve caregivers' quality of life.


Assuntos
Transtorno Depressivo , Doenças Neurodegenerativas , Doença de Parkinson , Cuidadores , Estudos Transversais , Depressão/epidemiologia , Transtorno Depressivo/epidemiologia , Feminino , Humanos , Doença de Parkinson/epidemiologia , Prevalência , Escalas de Graduação Psiquiátrica , Qualidade de Vida
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