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1.
BMJ Neurol Open ; 6(2): e000793, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39493675

RESUMO

Objectives: Deep Brain Stimulation (DBS) is an effective, yet underused therapy for people living with Parkinson's disease (PD) in whom tremor, motor fluctuations and/or dyskinesia are not satisfactorily controlled by oral medical therapy. Fear of vascular complications related to the operative procedure remains a strong reason for both the referrer and patient reluctance. We review the incidence of vascular complications in the first 600 patients with Parkinson's disease treated at our centre by a single neurologist/neurosurgical team. Methods: Surgical data routinely collected for patients who underwent DBS implantation for the management of PD between the years 2001-2023 was retrospectively reviewed. Incidences of vascular complication were analysed in detail, examining causal factors. Results: Including reimplantations, 600 consecutive DBS patients underwent implantation with 1222 DBS electrodes. Three patients (0.50%) experienced vascular complications. Conclusion: This vascular complication rate is at the low end of that reported in the literature. Risk mitigation strategies discussed include a consistent neurosurgical team, dual methodology target and trajectory planning, control of cerebrospinal fluid egress during the procedure, use of a specialised microelectrode recording (MER)/macrostimulation electrode without an introducing brain cannula and low number of MER passes. A reduced vascular complication rate may improve the acceptability of DBS therapy for both patients and referrers.

2.
J Neurosurg Pediatr ; : 1-6, 2024 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-39486079

RESUMO

OBJECTIVE: Patient- and surrogate-reported outcomes are increasingly recognized as important and historically limited dimensions of satisfaction with medical care. Evaluating caregiver satisfaction for cerebral palsy (CP) patients with pediatric movement disorders (PMDs) remains undefined, limited by a lack of appropriate tools and the heterogeneity of the patient population. The authors identified caregiver satisfaction with the neurosurgical management of PMDs as a key quality metric and report their results across an institutional experience. METHODS: A retrospective single-institution survey study was performed on caregivers of consecutive children who underwent PMD surgery from March 2022 to December 2023. The authors designed a brief 4-question satisfaction survey with dichotomous yes/no answers. The telephone survey solicited answers from primary caregivers, and contact attempts were made 3 times before labeling a nonresponder. Non-English speakers were included. The survey answers were correlated with demographic characteristics, clinical data, and complications. Descriptive statistics were performed using Excel. RESULTS: Seventy patients were identified in the study period with 50 associated caregivers voluntarily responding to the questionnaire (50/70 [71.4%]). Forty-six male and 24 female patients with a mean (range) age of 13.1 (2-34) years and a follow-up range of 3-20 months were included. All 50 caregivers reported satisfaction with the surgical care their child received: 100% confirmed they would refer others to the program and 94% confirmed that they would have the surgery again in retrospect. Ten caregivers (10/50 [20%]) recalled complications, but only 5 (5/50 [10%]) surgical complications resulted in hospital readmission. CONCLUSIONS: Caregivers were overwhelmingly satisfied with the neurosurgical care for PMDs and would recommend the functional pediatric neurosurgery program to others. A large percentage would again submit to the surgery. There is a perception disparity between caregiver- and hospital-identified complications; it may be beneficial to emphasize expected adverse effects with caregivers prior to surgery. Caregiver satisfaction remains an important quality dimension and future research may benefit from more objective metrics.

3.
Sci Rep ; 14(1): 25088, 2024 10 23.
Artigo em Inglês | MEDLINE | ID: mdl-39443529

RESUMO

123I-FP-CIT SPECT enables the detection of presynaptic dopaminergic denervation. It allows to differentiate degenerative parkinsonian syndromes from secondary parkinsonian syndromes or essential tremor, and patients with suspected dementia with Lewy bodies from those with other dementia subtypes. The aim of our study was to evaluate the appropriateness of 123I-FP-CIT SPECT prescriptions, identify prescriber profiles and analyze changes in prescriptions over a decade in the Neurology department of Avicenne University hospital. This retrospective study included all patients who underwent 123I-FP-CIT SPECT between February 2009 and May 2019 (n = 723). Clinical and paraclinical data were compared between three groups based on the relevance of 123I-FP-CIT SPECT prescription: "inappropriate", "uncertain" and "relevant". We showed that inappropriate indications accounted for 37.5% of 123I-FP-CIT SPECT requests. Hospital neurologists and neurologists with mixed practice accounted for 74.1% of 123I-FP-CIT SPECT requests, hospital movement disorders specialists being more likely to prescribe appropriately (67.1%) than hospital non-movement disorders specialists (33.3%). Following the replacement of the neuro-oncology team with a team including movement disorders specialists, the percentage of relevant SPECT 123I-FP-CIT prescriptions rose from 37.5% to 81.0%. These observations suggest that seeking the expertise of a movement disorders specialist would be more relevant than the systematic prescription of 123I-FP-CIT SPECT.


Assuntos
Transtornos Parkinsonianos , Tomografia Computadorizada de Emissão de Fóton Único , Humanos , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Masculino , Feminino , Idoso , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/diagnóstico , Estudos Retrospectivos , Pessoa de Meia-Idade , Tropanos , Idoso de 80 Anos ou mais
4.
Artigo em Inglês | MEDLINE | ID: mdl-39431460

RESUMO

BACKGROUND: Huntington's Disease is a rare neurodegenerative disorder in which appropriate medication management is essential. While many medications are prescribed based on expert knowledge, overviews of actual medication use in HD are sparse. OBJECTIVES: We provide a detailed overview of medication use and associated indications across HD disease stages, considering sex and regional differences. METHODS: Data from the largest observational HD study, ENROLL-HD, were used. We created HD-related medication and indication classes to identify medication trends in manifest, premanifest and control subjects. We studied medication use in adult, childhood- and adolescent-onset HD, incorporating disease stage (including phenoconverters), sex and regional differences. RESULTS: In 8546 manifest HD patients, 84.6% used medication (any type), with the average number of medications per user rising from 2.5 in premanifest HD to 5.2 in end stage disease. Antipsychotics (29.2%), SSRIs (27.5%) and painkillers (21.8%) were most often used. Medication use varied with disease progression. Several differences were observed between the sexes, and notably between Europe and Northern America as well. Medication use increased after phenoconversion (from 64.8% to 70.6%, P < 0.05), with the largest difference in antipsychotic use (4.4%-7.8%, P < 0.05). Medication patterns were different in childhood-onset HD, with no use of painkillers, less use of anti-chorea and antidepressant drugs, and more for aggression and irritability. CONCLUSIONS: Medication use in HD increases with disease progression, with varying types of medications prescribed based on disease stage, sex, and region of living. Recognizing these medication trends is vital for further personalized HD management.

5.
PET Clin ; 2024 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-39477718

RESUMO

Since the 2000s, Nuclear Medicine has primarily used SPECT with DaTSCAN and PET with [18F]-FDG to explore movement disorders. Recent advances in PET radiotracers, such as LBT 999 for dopamine transporters and tau tracers like flortaucipir for tauopathies, are enhancing diagnostic precision. Other PET tracers target neuroinflammation, synaptic density, cholinergic function, and adenosine A2A receptors. Novel tools like [18F]-ROStrace help detect oxidative stress in neurodegenerative disorders. These developments promise better patient management, reduced examination times, and improved diagnostic accuracy in the exploration of movement disorders pathologies.

6.
PET Clin ; 2024 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-39477721

RESUMO

Neuroimaging, particularly positron emission tomography (PET), plays a crucial role in diagnosing and managing brain disorders by providing insights into diverse neuropathologies such as vascular issues, infections, inflammation, degenerative diseases, and tumors. In dementia, [18F]FDG-PET helps predict Alzheimer's disease (AD) development from mild cognitive impairment, revealing metabolic reductions in specific brain regions. PET's evolution with novel radiotracers and advanced imaging techniques addresses diagnostic challenges and enhances disease monitoring. Despite limitations like off-target binding, PET remains indispensable in clinical neurology, offering noninvasive insights into brain functions, disease progression, and treatment responses.

7.
medRxiv ; 2024 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-39399050

RESUMO

Although deep brain stimulation of the subthalamic nucleus (STN-DBS) induces motor benefits in people with Parkinson's disease (PwPD), the size and duration of the effects of STN-DBS on motor axial (e.g., postural instability, trunk posture alterations) and gait impairments (e.g., freezing of gait - FOG) are still ambiguous. Physical therapy (PT) effectively complements pharmacological treatment to improve postural stability, gait performance, and other dopamine-resistant symptoms (e.g. festination, hesitation, axial motor dysfunctions, and FOG) in PwPD who are non-surgically treated. Despite the potential for positive adjuvant effects of PT following STN-DBS surgery, there is a paucity of science available on the topic. In such a scenario, gathering the opinion and expertise of leading investigators worldwide was pursued to study motor rehabilitation in PwPD following STN-DBS. After summarizing the few available findings through a systematic review, we identified clinical and academically experienced DBS clinicians (n=21) to discuss the challenges related to PT following STN-DBS. A 5-point Likert scale questionnaire was used and based on the results of the systematic review along with a Delphi method. Thirty-nine questions were submitted to the panel - half related to general considerations on PT following STN-DBS, half related to PT treatments. Despite the low-to-moderate quality, the few available rehabilitative studies suggested that PT could improve dynamic and static balance, gait performance and posture. Similarly, panellists strongly agreed that PT might help in improving motor symptoms and quality of life, and it may be possibly prescribed to maximize the effects of the stimulation. The experts agreed that physical therapists could be part of the multidisciplinary team taking care of the patients. Also, they agreed on prescribing of conventional PT, but not massage or manual therapy. Our results will inform the rehabilitation and the DBS community to engage, publish and deepen this area of research. Such efforts may spark guidelines for PT following STN-DBS.

8.
Neurol Clin ; 42(4): 889-902, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39343482

RESUMO

In this review article, the authors describe the invaluable role that neuropsychology plays in neurosurgical care for a broad range of pathologies. As our understanding of cognitive and behavioral implications of diseases and surgical management of the brain has deepened, so has the need to preserve the quality of life for patients undergoing surgery to optimize well-being and overall survival. This article recounts the history of neuropsychology, details tools and techniques used by neuropsychologists including the neuropsychological assessment, fMRI, tractography, and awake surgery, and discusses the practical applications of neuropsychological evaluation in tumor surgery, epilepsy, deep brain modulation, and beyond.


Assuntos
Neuropsicologia , Procedimentos Neurocirúrgicos , Humanos , Neuropsicologia/história , Testes Neuropsicológicos
9.
Sleep Med ; 122: 51-53, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39121824

RESUMO

OBJECTIVES: This study aims to investigate sex differences in response to iron supplementation in children and adolescents suffering from sleep-related movement disorders such as Restless Legs Syndrome (RLS), Periodic Limb Movement Disorder (PLMD), and Restless Sleep Disorder (RSD). METHODS: Data were retrieved and reanalyzed from previous studies involving children with RLS, PLMD, or RSD. The analysis included 54 patients treated with intravenous (IV) ferric carboxymaltose (FCM) and 31 patients treated with oral ferrous sulfate (FS). Demographic, biological, and clinical parameters were compared between sexes. Clinical outcomes were measured using the Clinical Global Impression rating scales for severity (CGI-S) and improvement (CGI-I). RESULTS: In the group treated with IV FCM, no significant differences were found between males and females in demographic (age), biological (ferritin, iron, total iron-binding capacity, transferrin), or clinical parameters (CGI-S and CGI-I). However, among adolescents, females showed significantly better clinical improvement (CGI-I) compared to males (t-value 2.428, p < 0.024). In the group treated with oral FS, no significant sex differences were observed in any parameters. Side effects were reported by a small number of patients, with no significant difference between sexes. CONCLUSION: The findings indicate no major significant sex-based differences in response to iron supplementation for treating sleep-related movement disorders in children and adolescents, despite distinct hormonal and physiological differences in iron metabolism. Both boys and girls benefit similarly from iron treatment during this developmental stage, suggesting that a standardized approach to iron supplementation may be effective. However, individual assessment and monitoring remain crucial to ensure optimal outcomes.


Assuntos
Compostos Ferrosos , Síndrome das Pernas Inquietas , Humanos , Masculino , Feminino , Síndrome das Pernas Inquietas/tratamento farmacológico , Criança , Adolescente , Compostos Ferrosos/administração & dosagem , Compostos Ferrosos/uso terapêutico , Compostos Férricos/administração & dosagem , Compostos Férricos/uso terapêutico , Fatores Sexuais , Maltose/análogos & derivados , Maltose/administração & dosagem , Maltose/uso terapêutico , Síndrome da Mioclonia Noturna/tratamento farmacológico , Suplementos Nutricionais , Ferro/administração & dosagem , Ferro/uso terapêutico , Administração Oral
10.
BMJ Case Rep ; 17(8)2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39179267

RESUMO

Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare acquired neurological disorder characterized by opsoclonus, focal or diffuse myoclonus, truncal instability and associated other cerebellar signs and ataxia. While predominantly affecting children, it can rarely manifest in adults and could be associated with infections, paraneoplastic syndrome, drugs or other neurological disorders. We present a case of an elderly gentleman presenting with OMAS associated with a culture-positive urinary tract infection with Escherichia coli, successfully treated with antibiotics and immunoglobulins resulting in significant recovery.


Assuntos
Antibacterianos , Infecções por Escherichia coli , Síndrome de Opsoclonia-Mioclonia , Infecções Urinárias , Humanos , Masculino , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Síndrome de Opsoclonia-Mioclonia/etiologia , Síndrome de Opsoclonia-Mioclonia/microbiologia , Infecções Urinárias/complicações , Infecções Urinárias/tratamento farmacológico , Infecções Urinárias/diagnóstico , Infecções Urinárias/microbiologia , Antibacterianos/uso terapêutico , Infecções por Escherichia coli/complicações , Infecções por Escherichia coli/diagnóstico , Infecções por Escherichia coli/tratamento farmacológico , Idoso , Escherichia coli/isolamento & purificação
11.
J Neurol ; 271(9): 5875-5885, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38977461

RESUMO

BACKGROUND: Retrospective studies suggest that spinal movement disorders, especially tonic spasms, are prevalent in NMOSD. However, there have been no prospective studies evaluating spinal movement disorders in NMOSD, MOGAD, and idiopathic transverse myelitis (ITM). METHODS: Patients referred to a tertiary neuroimmunology clinic for spinal cord demyelination (excluding MS) were evaluated. All patients answered a movement disorders survey and underwent a movement disorder-focused exam. Movement disorders were compared among patients with NMOSD with and without AQP4-IgG, MOGAD, and ITM. Patients with and without involuntary movements were also compared to identify predictors of spinal movement disorders. RESULTS: Sixty-three patients were evaluated from 2017 to 2021 (71% females, median age 49 years, range 18-72 years, median disease duration 12 months, range 1-408). Of the total, 49% had ITM, 21% had NMOSD without AQP4-IgG, 19% had NMOSD with AQP4-IgG, and 11% had MOGAD. Movement disorders were present in 73% of the total patients and were most frequent in NMOSD with AQP4-IgG (92%) and least frequent in MOGAD (57%). The most frequent spinal movement disorders were tonic spasms (57%), focal dystonia (25%), spinal tremor (16%), spontaneous clonus (9.5%), secondary restless limb syndrome (9.5%), and spinal myoclonus (8%). Multivariate analysis showed that longitudinally extensive myelitis and AQP4-IgG are independent risk factors for the development of spinal movement disorders, while MOG-IgG and African American race were associated with a lower risk of developing these movement disorders. CONCLUSIONS: Spinal movement disorders are highly prevalent in non-MS demyelinating disorders of the spinal cord. Prevalence rates exceed those reported in MS and retrospective NMOSD studies.


Assuntos
Aquaporina 4 , Transtornos dos Movimentos , Mielite Transversa , Neuromielite Óptica , Humanos , Pessoa de Meia-Idade , Feminino , Mielite Transversa/epidemiologia , Adulto , Masculino , Idoso , Adolescente , Adulto Jovem , Neuromielite Óptica/epidemiologia , Estudos Prospectivos , Transtornos dos Movimentos/epidemiologia , Aquaporina 4/imunologia
12.
BMJ Case Rep ; 17(7)2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-39074939

RESUMO

A female adolescent presented with a 9 month history of progressive involuntary movements, initially manifesting as finger tremors and evolving into flinging motions of the extremities, resulting in an inability to walk over the last 4 months. Concurrently, she developed dysarthria. Neurologically, she exhibited normal power, rigidity and brisk deep tendon reflexes, with a downgoing plantar reflex. Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liver function tests and ultrasound were normal while Kayser-Fleischer rings were confirmed by slit lamp examination. Serum ceruloplasmin was low, 24-hour urine copper was elevated (125.5 mcg) and whole exome sequencing identified a heterozygous ATP7B mutation, confirming the diagnosis. Isolated neurological involvement without hepatic involvement is an extremely rare presentation and needs clinical expertise to delineate Wilson's disease as a possible aetiology.


Assuntos
ATPases Transportadoras de Cobre , Degeneração Hepatolenticular , Imageamento por Ressonância Magnética , Humanos , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/complicações , Feminino , Adolescente , ATPases Transportadoras de Cobre/genética , Cobre/urina , Mutação , Ceruloplasmina
13.
Cureus ; 16(4): e57452, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38699125

RESUMO

Essential tremor (ET) is one of the most common adult movement disorders. As the worldwide population ages, the incidence and prevalence of ET is increasing. Although most cases can be managed conservatively, there is a subset of ET that is refractory to medical management. By virtue of being "reversible", deep brain stimulation (DBS) of the ventral intermediate nucleus (VIM) of the thalamus is one commonly accepted intervention. As an alternative to invasive and expensive DBS, there has been a renaissance in treating ET with lesion-based approaches, spearheaded most recently by high-intensity focused ultrasound (HIFU), the hallmark of which is that it is non-invasive. Meanwhile, stereotactic radiosurgical (SRS) lesioning of VIM represents another time-honored lesion-based non-invasive treatment of ET, which is especially well suited for those patients that cannot tolerate open neurosurgery and is now also getting a "second look". While multiple SRS platforms have been and continue to be used to treat ET, there is little in the way of dosimetric comparison between different technologies. In this brief technical report we compare the dosimetric profiles of three major radiosurgical platforms (Gamma Knife, CyberKnife Robotic Radiosurgery, and Zap-X Gyroscopic Radiosurgery (GRS)) for the treatment of ET. In general, the GRS and Gamma Knife were shown to have the best theoretical dosimetric profiles for VIM lesioning. Nevertheless the relevance of such superiority to clinical outcomes requires future patient studies.

14.
J Clin Invest ; 134(12)2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38713532

RESUMO

Satellite cells, the stem cells of skeletal muscle tissue, hold a remarkable regeneration capacity and therapeutic potential in regenerative medicine. However, low satellite cell yield from autologous or donor-derived muscles hinders the adoption of satellite cell transplantation for the treatment of muscle diseases, including Duchenne muscular dystrophy (DMD). To address this limitation, here we investigated whether satellite cells can be derived in allogeneic or xenogeneic animal hosts. First, injection of CRISPR/Cas9-corrected Dmdmdx mouse induced pluripotent stem cells (iPSCs) into mouse blastocysts carrying an ablation system of host satellite cells gave rise to intraspecies chimeras exclusively carrying iPSC-derived satellite cells. Furthermore, injection of genetically corrected DMD iPSCs into rat blastocysts resulted in the formation of interspecies rat-mouse chimeras harboring mouse satellite cells. Notably, iPSC-derived satellite cells or derivative myoblasts produced in intraspecies or interspecies chimeras restored dystrophin expression in DMD mice following intramuscular transplantation and contributed to the satellite cell pool. Collectively, this study demonstrates the feasibility of producing therapeutically competent stem cells across divergent animal species, raising the possibility of generating human muscle stem cells in large animals for regenerative medicine purposes.


Assuntos
Células-Tronco Pluripotentes Induzidas , Distrofia Muscular de Duchenne , Células Satélites de Músculo Esquelético , Animais , Camundongos , Distrofia Muscular de Duchenne/terapia , Distrofia Muscular de Duchenne/genética , Células-Tronco Pluripotentes Induzidas/transplante , Células-Tronco Pluripotentes Induzidas/citologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Ratos , Células Satélites de Músculo Esquelético/transplante , Células Satélites de Músculo Esquelético/metabolismo , Células Satélites de Músculo Esquelético/citologia , Transplante de Células-Tronco , Humanos , Distrofina/genética , Distrofina/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/citologia , Camundongos Endogâmicos mdx , Xenoenxertos , Transplante Heterólogo , Injeções Intramusculares , Transplante Homólogo
15.
Eur J Ophthalmol ; : 11206721241259145, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38809679

RESUMO

PURPOSE: This study aims to describe the ocular manifestations, treatment, and prognosis of OPMD patients registered in the national Israel OPMD(IsrOPMD) registry. METHODS: Data was prospectively collected from patients referred to the IsrOPMD registry from January 2022 to March 2023. This included patient demographics, medical and ocular history, eye exams, eyelid evaluations, visual field exams, and orthoptic evaluations. RESULTS: 30 patients (15 males, mean age 53 years) were treated in the ocular OPMD clinic, predominantly of Bukhari descent (86.6%). The mean visual acuity was 0.06 logMAR. Twenty-one patients (70%) had eye movement problem, mostly in horizontal gaze. 6(20%) patients' complaint about diplopia. Ptosis surgery was performed in 21(70%) patients, with 17(56.7%) patients underwent frontalis sling surgery and 4(13.3%) patients undergoing levator advancement. The mean Margin reflex distance (MRD1) improved post-surgery (2.28 mm vs. 1.58 mm), but 11(36.6%) patients required more than one ptosis surgery. CONCLUSIONS: The study contributes valuable insights into the ocular aspects of OPMD. It reveals that OPMD patients often experience a range of ocular symptoms, such as ptosis, abnormalities in eye movements, strabismus, and potentially diplopia, which can significantly impact their quality of life. The findings underscore the importance of regular ophthalmological follow-up for these patients to address these symptoms effectively. The study is significant in contributing to the limited but growing knowledge about the ocular manifestations of OPMD and the management of these symptoms to improve the quality of life for patients suffering from this condition.

16.
BMC Med ; 22(1): 218, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38816877

RESUMO

BACKGROUND: Deep brain stimulation (DBS) is a promising therapy for refractory Gilles de la Tourette syndrome (GTS). However, its long-term efficacy, safety, and recommended surgical age remain controversial, requiring evidence to compare different age categories. METHODS: This retrospective cohort study recruited 102 GTS patients who underwent DBS between October 2006 and April 2022 at two national centers. Patients were divided into two age categories: children (aged < 18 years; n = 34) and adults (aged ≥ 18 years; n = 68). The longitudinal outcomes as tic symptoms were assessed by the YGTSS, and the YBOCS, BDI, and GTS-QOL were evaluated for symptoms of obsessive-compulsive disorder (OCD), depression, and quality of life, respectively. RESULTS: Overall, these included patients who finished a median 60-month follow-up, with no significant difference between children and adults (p = 0.44). Overall, the YGTSS total score showed significant postoperative improvements and further improved with time (improved 45.2%, 51.6%, 55.5%, 55.6%, 57.8%, 61.4% after 6, 12, 24, 36, 48, and ≥ 60 months of follow-up compared to baseline, respectively) in all included patients (all p < 0.05). A significantly higher improvement was revealed in children than adults at ≥ 60 months of follow-up in the YGTSS scores (70.1% vs 55.9%, p = 0.043), and the time to achieve 60% improvement was significantly shorter in the children group (median 6 months vs 12 months, p = 0.013). At the last follow-up, the mean improvements were 45.4%, 48.9%, and 55.9% and 40.3%, 45.4%, and 47.9% in YBOCS, BDI, and GTS-QOL scores for children and adults, respectively, which all significantly improved compared to baseline (all p < 0.05) but without significant differences between these two groups (all p > 0.05), and the children group received significantly higher improvement in GTS-QOL scores than adults (55.9% vs. 47.9%, p = 0.049). CONCLUSIONS: DBS showed acceptable long-term efficacy and safety for both children and adults with GTS. Surgeries performed for patients younger than 18 years seemed to show acceptable long-term efficacy and safety and were not associated with increased risks of loss of benefit compared to patients older than 18 at the time of surgery. However, surgeries for children should also be performed cautiously to ensure their refractoriness and safety.


Assuntos
Estimulação Encefálica Profunda , Síndrome de Tourette , Humanos , Síndrome de Tourette/terapia , Estimulação Encefálica Profunda/métodos , Masculino , Feminino , Criança , Adulto , Adolescente , Estudos Retrospectivos , Seguimentos , Adulto Jovem , Resultado do Tratamento , Qualidade de Vida , Pessoa de Meia-Idade , Fatores Etários
17.
Artigo em Inglês | MEDLINE | ID: mdl-38737299

RESUMO

Background: Tremor disorders have various genetic causes. Case report: A 60-year-old female with a family history of tremor presented a combined tremor syndrome, transient episodes of loss of contact and speech disturbances, as well as distal painful symptoms. Genetic screening revealed a novel heterozygous missense variant in the KCNQ2 gene. Discussion: The KCNQ2 protein regulates action potential firing, and mutations in its gene are associated with epilepsy and neuropathic pain. The identified variant, although of uncertain significance, may disrupt KCNQ2 function and also play a role in tremor pathogenesis. This case highlights the importance of genetic screening in combined tremor disorders.


Assuntos
Canal de Potássio KCNQ2 , Tremor , Feminino , Humanos , Pessoa de Meia-Idade , Canal de Potássio KCNQ2/genética , Mutação de Sentido Incorreto , Tremor/genética , Tremor/fisiopatologia
19.
Rinsho Shinkeigaku ; 64(6): 390-397, 2024 Jun 27.
Artigo em Japonês | MEDLINE | ID: mdl-38811203

RESUMO

Malfunction of the basal ganglia leads to movement disorders such as Parkinson's disease, dystonia, Huntington's disease, dyskinesia, and hemiballism, but their underlying pathophysiology is still subject to debate. To understand their pathophysiology in a unified manner, we propose the "dynamic activity model", on the basis of alterations of cortically induced responses in individual nuclei of the basal ganglia. In the normal state, electric stimulation in the motor cortex, mimicking cortical activity during initiation of voluntary movements, evokes a triphasic response consisting of early excitation, inhibition, and late excitation in the output stations of the basal ganglia of monkeys, rodents, and humans. Among three components, cortically induced inhibition, which is mediated by the direct pathway, releases an appropriate movement at an appropriate time by disinhibiting thalamic and cortical activity, whereas early and late excitation, which is mediated by the hyperdirect and indirect pathways, resets on-going cortical activity and stops movements, respectively. Cortically induced triphasic response patterns are systematically altered in various movement disorder models and could well explain the pathophysiology of their motor symptoms. In monkey and mouse models of Parkinson's disease, cortically induced inhibition is reduced and prevents the release of movements, resulting in akinesia/bradykinesia. On the other hand, in a mouse model of dystonia, cortically induced inhibition is enhanced and releases unintended movements, inducing involuntary muscle contractions. Moreover, after blocking the subthalamic nucleus activity in a monkey model of Parkinson's disease, cortically induced inhibition is recovered and enables voluntary movements, explaining the underlying mechanism of stereotactic surgery to ameliorate parkinsonian motor signs. The "dynamic activity model" gives us a more comprehensive view of the pathophysiology underlying motor symptoms of movement disorders and clues for their novel therapies.


Assuntos
Transtornos dos Movimentos , Humanos , Animais , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/etiologia , Camundongos , Gânglios da Base/fisiopatologia , Modelos Animais de Doenças , Doença de Parkinson/fisiopatologia
20.
Stereotact Funct Neurosurg ; 102(3): 141-155, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38636468

RESUMO

INTRODUCTION: Deep brain stimulation (DBS) is a well-established surgical therapy for patients with Parkinsons' Disease (PD). Traditionally, DBS surgery for PD is performed under local anesthesia, whereby the patient is awake to facilitate intraoperative neurophysiological confirmation of the intended target using microelectrode recordings. General anesthesia allows for improved patient comfort without sacrificing anatomic precision and clinical outcomes. METHODS: We performed a systemic review and meta-analysis on patients undergoing DBS for PD. Published randomized controlled trials, prospective and retrospective studies, and case series which compared asleep and awake techniques for patients undergoing DBS for PD were included. A total of 19 studies and 1,900 patients were included in the analysis. RESULTS: We analyzed the (i) clinical effectiveness - postoperative UPDRS III score, levodopa equivalent daily doses and DBS stimulation requirements. (ii) Surgical and anesthesia related complications, number of lead insertions and operative time (iii) patient's quality of life, mood and cognitive measures using PDQ-39, MDRS, and MMSE scores. There was no significant difference in results between the awake and asleep groups, other than for operative time, for which there was significant heterogeneity. CONCLUSION: With the advent of newer technology, there is likely to have narrowing differences in outcomes between awake or asleep DBS. What would therefore be more important would be to consider the patient's comfort and clinical status as well as the operative team's familiarity with the procedure to ensure seamless transition and care.


Assuntos
Estimulação Encefálica Profunda , Doença de Parkinson , Vigília , Estimulação Encefálica Profunda/métodos , Humanos , Doença de Parkinson/terapia , Doença de Parkinson/cirurgia , Anestesia Geral/métodos , Resultado do Tratamento , Anestesia/métodos
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