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1.
Acta Neurol Belg ; 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38575842

RESUMO

BACKGROUND: Writer's cramp is a task-specific focal hand dystonia, which is diagnosed clinically. Quantification of defect in WC is done using clinical scales, while digitized platforms are lacking. OBJECTIVE: To design and test a platform that can differentiate and quantify the abnormal kinematics of writing using a software interface and to validate it in adult-onset isolated writer's cramp (WC). METHODS: A native platform was designed using Java and Wacom Intuos pro tablet and the data analyzed using a MATLAB-based platform called Large Data-Based Evaluation of Kinematics in Handwriting (LEKH). We standardized this new platform by comparing the handwriting between patients with WC and age, and gender and education-matched healthy controls, using standard tasks to assess the kinematics. RESULTS: Comparison of the writing of right-handed WC patients (N = 21) and 39 healthy controls (N = 39) showed that patients differed from controls in the frequency of strokes (P < 0.001), number of inversions of velocity (P < 0.001), number of breaks (P = 0.02), air time and paper time (P < 0.001). CONCLUSIONS: Using the LEKH platform, the kinematic profile of patients with WC could be differentiated from healthy controls. Studies in larger samples will be needed to derive statistical models that can differentiate the flexion and extension types of WC which can help in muscle selection and to quantify the effects of treatment.

4.
Cogn Neurodyn ; 18(1): 133-146, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38406203

RESUMO

Electroencephalography (EEG) is a crucial non-invasive medical tool for diagnosing neurological disorder called encephalopathy. There is a requirement for powerful signal processing algorithms as EEG patterns in encephalopathies are not specific to a particular etiology. As visual examination and linear methods of EEG analysis are not sufficient to get the subtle information regarding various neuro pathologies, non-linear analysis methods can be employed for exploring the dynamic, complex and chaotic nature of EEG signals. This work aims identifying and differentiating the patterns specific to cerebral dysfunctions associated with Encephalopathy using Recurrence Quantification Analysis and Fractal Dimension algorithms. This study analysed six RQA features, namely, recurrence rate, determinism, laminarity, diagonal length, diagonal entropy and trapping time and comparing them with fractal dimensions, namely, Higuchi's and Katz's fractal dimension. Fractal dimensions were found to be lower for encephalopathy cases showing decreased complexity when compared to that of normal healthy subjects. On the other hand, RQA features were found to be higher for encephalopathy cases indicating higher recurrence and more periodic patterns in EEGs of encephalopathy compared to that of normal healthy controls. The feature reduction was then performed using Principal Component Analysis and fed to three promising classifiers: SVM, Random Forest and Multi-layer Perceptron. The resultant system provides a practically realizable pipeline for the diagnosis of encephalopathy.

5.
Childs Nerv Syst ; 40(3): 839-854, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38010434

RESUMO

OBJECTIVES: The utility of intraoperative electrocorticography (ECoG)-guided resective surgery for pediatric long-term epilepsy-associated tumors (LEATs) with antiseizure medication (ASM) resistant epilepsy is not supported by robust evidence. As epilepsy networks and their ramifications are different in children from those in adults, the impact of intraoperative ECoG-based tailored resections in predicting prognosis and influencing outcomes may also differ. We evaluated this hypothesis by comparing the outcomes of resections with and without the use of ECoG in children and adults by a randomized study. METHODS: From June 2020 to January 2022, 42 patients (17 children and 25 adults) with LEATs and antiseizure medication (ASM)-resistant epilepsy were randomly assigned to one of the 2 groups (ECoG or no ECoG), prior to surgical resection. The 'no ECoG' arm underwent gross total lesion resection (GTR) without ECoG guidance and the ECoG arm underwent GTR with ECoG guidance and further additional tailored resections, as necessary. Factors evaluated were tumor location, size, lateralization, seizure duration, preoperative antiepileptic drug therapy, pre- and postresection ECoG patterns and tumor histology. Postoperative Engel score and adverse event rates were compared in the pediatric and adult groups of both arms. Eloquent cortex lesions and re-explorations were excluded to avoid confounders. RESULTS: Forty-two patients were included in the study of which 17 patients were in the pediatric cohort (age < 18 years) and 25 in the adult cohort. The mean age in the pediatric group was 11.11 years (SD 4.72) and in the adult group was 29.56 years (SD 9.29). The mean duration of epilepsy was 9.7 years (SD 4.8) in the pediatric group and 10.96 (SD 8.8) in the adult group. The ECoG arm of LEAT resections had 23 patients (9 children and 14 adults) and the non-ECoG arm had 19 patients (8 children and 11 adults). Three children and 3 adults from the ECoG group further underwent ECoG-guided tailored resections (average 1.33 additional tailored resections/per patient.).The histology of the tailored resection specimen was unremarkable in 3/6 (50%).Overall, the commonest histology in both groups was ganglioglioma and the temporal lobe, the commonest site of the lesion. 88.23% of pediatric cases (n = 15/17) had an excellent outcome (Engel Ia) following resection, compared to 84% of adult cases (n = 21/25) at a mean duration of follow-up of 25.76 months in children and 26.72 months in adults (p = 0.405).There was no significant difference in seizure outcomes between the ECoG and no ECoG groups both in children and adults, respectively (p > 0.05). Additional tailored resection did not offer any seizure outcome benefit when compared to the non-tailored resections. CONCLUSIONS: The use of intraoperative electrocorticography in LEATs did not contribute to postoperative seizure outcome benefit in children and adults. No additional advantage or utility was offered by ECoG in children when compared to its use in adults. ECoG-guided additional tailored resections did not offer any additional seizure outcome benefit both in children and adults.


Assuntos
Neoplasias Encefálicas , Epilepsia Resistente a Medicamentos , Epilepsia , Ganglioglioma , Adulto , Humanos , Criança , Adolescente , Eletrocorticografia , Estudos Retrospectivos , Epilepsia/etiologia , Epilepsia/cirurgia , Convulsões/cirurgia , Epilepsia Resistente a Medicamentos/cirurgia , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia
6.
Acta Neurol Belg ; 124(2): 475-484, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37898963

RESUMO

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin. OBJECTIVE: To provide new insight into the occurrence of SACS mutations in South India. METHODS: Patients with three cardinal features of ARSACS-peripheral neuropathy, cerebellar ataxia, and pyramidal tract signs were included. Nine patients were clinically identified and genetically evaluated. Mutation screening of SACS by targeted sequencing of 40 recessive ataxia genes panel by next-generation sequencing was conducted. Additional investigations included magnetic resonance imaging (MRI), fundoscopy, optical coherence tomography (OCT) and nerve conduction studies (NCS). Functional disability was assessed by the Spinocerebellar Degeneration Functional Score. RESULTS: Two hundred and fifteen cerebellar ataxia patients were screened, and 9 patients with cerebellar ataxia with spasticity, peripheral neuropathy and MRI brain characteristics, consistent with a clinical diagnosis of ARSACS were identified, of which 7 patients were identified to have mutation in the SACS gene and are detailed hereafter. Age of presentation ranged from 20 to 55 years (29.8 ± 11.9) with a mean disease duration of 12.7 years (SD-7.65, range 5-22 years). All except one had onset of symptoms in the form of an ataxic gait noticed before 20 years of age. Additional features were subnormal intelligence (4/7), slow and hypometric saccades (1/7), seizures (1/7), kyphoscoliosis (1/7) and dysmorphic facies (1/7). SDFS was 3 in 5/7 patients signifying moderate disability with independent ambulation. MRI showed cerebellar atrophy with predominant atrophy of the superior vermis (7/7), horizontal linear T2 hypointensities in the pons(7/7), hyperintensities where lateral pons merges with the middle cerebellar peduncle (MCP) (7/7) well seen in fluid-attenuated inversion recovery (FLAIR) images, thickening of MCP (3/7), symmetric lateral thalamic hyperintensities (6/7), posterior fossa arachnoid cyst (4/7),thinning of posterior mid-body of corpus callosum (7/7), marginal mineralisation of the basal ganglia (7/7), bilateral parietal atrophy (7/7) and thinning of corticospinal tract on diffusion tensor imaging (DTI) (7/7). We identified pathogenic homozygous frameshift mutations in the SACS gene in six patients (including two siblings), while one patient had a heterozygous pathogenic deletion. CONCLUSIONS: This is the largest series of genetically confirmed ARSACS patients from India highlighting the clinical, ophthalmological, imaging and genetic features of this cohort.


Assuntos
Ataxia Cerebelar , Doenças do Sistema Nervoso Periférico , Ataxias Espinocerebelares/congênito , Humanos , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Ataxia Cerebelar/diagnóstico por imagem , Ataxia Cerebelar/genética , Imagem de Tensor de Difusão , Mutação/genética , Espasticidade Muscular/diagnóstico por imagem , Espasticidade Muscular/genética , Atrofia
7.
Acta Neurol Belg ; 124(2): 389-394, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38114875

RESUMO

Familial Adult Myoclonus Epilepsy (FAME), with a prevalence of < 1/35 000, is known under different acronyms. The disease is transmitted in an autosomal dominant manner and is characterized by the occurrence of cortical myoclonic tremor, overt myoclonus, and rare bilateral tonic-clonic seizures. FAME is considered neurodegenerative, although it is relatively slow in progression. Diagnosis is based on specific neurophysiological testing, namely jerk-locked back-averaging, somatosensory evoked potentials, long latency reflex, and motor evoked potentials, among others. Imaging data, including functional magnetic resonance imaging, indicate a cortical origin of the cortical myoclonic tremor and decreased cerebellar activation. Cerebellar changes in Purkinje cells have been noted, from few neuropathology reports, in patients from isolated pedigrees. The differential diagnosis includes essential tremor, some forms of genetic generalized epilepsy, and progressive myoclonus epilepsies. Treatment is mainly symptomatic.


Assuntos
Epilepsias Mioclônicas , Mioclonia , Adulto , Humanos , Tremor , Epilepsias Mioclônicas/genética , Potenciais Somatossensoriais Evocados , Reflexo , Eletroencefalografia
8.
Ann Indian Acad Neurol ; 26(4): 564, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37970249
10.
Curr Opin Neurol ; 36(4): 292-301, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37366140

RESUMO

PURPOSE OF REVIEW: Our knowledge of the genetic architecture underlying Parkinson's disease has vastly improved in the past quarter century. About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal dominant genes (e.g. SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. PRKN, PINK1, DJ-1) can cause genetic Parkinson's disease. Recessive DNAJC6 mutations can present predominantly as atypical parkinsonism, but also rarely as typical Parkinson's disease. Majority of Parkinson's disease is genetically complex. Mutation in RIC3 , a chaperone of neuronal nicotinic acetylcholine receptor subunit α-7 (CHRNA7), provides strong evidence for the role of cholinergic pathway, for the first time, in cause of Parkinson's disease. X-linked parkinsonism manifests at a young age accompanied by many (atypical) features such as intellectual disability, spasticity, seizures, myoclonus, dystonia, and have poor response to levodopa. SUMMARY: This review article aims to provide a comprehensive overview on Parkinson's disease genetics. MAPT , which encodes the microtubule associated protein tau, TMEM230, LRP10, NUS1 and ARSA are the five new putative disease-causing genes in Parkinson's disease. The validation of novel genes and its association with Parkinson's disease remains extremely challenging, as genetically affected families are sparse and globally widespread. In the near future, genetic discoveries in Parkinson's disease will influence our ability to predict and prognosticate the disease, help in defining etiological subtypes that are critical in implementation of precision medicine.


Assuntos
Doença de Parkinson , Transtornos Parkinsonianos , Humanos , Doença de Parkinson/genética , Proteínas de Membrana/genética , Transtornos Parkinsonianos/genética , Mutação/genética , Convulsões , Proteínas Relacionadas a Receptor de LDL/genética , Receptores de Superfície Celular/genética
11.
Ann Indian Acad Neurol ; 26(2): 182, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37179669
12.
Neurology ; 99(12): 531-534, 2022 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-36123134

RESUMO

Spinocerebellar ataxia 21 due to TMEM240 disease-associated variation characteristically presents insidiously with a delay in language, motor, and social skill acquisition. The condition typically progresses to severe cognitive impairment. We report a patient with SCA21 who presented with myoclonus dystonia (M-D) syndrome and whose dystonia showed a modest response to levodopa. Affected family members (mother and sibling of the proband) also had a similar phenotype. Neuropsychology evaluation of the proband and afflicted family members revealed moderate impairments in attention, executive function, short-term and episodic memory, and marked impairments in planning, abstract reasoning, language, and visuospatial functions. Normal EEG, α-fetoprotein levels, and somatosensory evoked potentials helped to delineate SCA21 from other differential diagnoses. Motor impairment, pyramidal signs, and sensory impairment are usually absent in SCA21. This case highlights the importance of genetic testing in patients with M-D syndrome and supports a trial of levodopa for patients with dystonia from SCA21 due to TMEM240 variation.


Assuntos
Distonia , Mioclonia , Distonia/diagnóstico , Distonia/genética , Distúrbios Distônicos , Humanos , Levodopa , Proteínas de Membrana/genética , Degenerações Espinocerebelares , alfa-Fetoproteínas
13.
Ann Indian Acad Neurol ; 25(3): 493-494, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35936636
14.
Neurol India ; 70(3): 1197-1199, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35864664

RESUMO

Calcific miliary brain metastasis is an extremely rare form of brain secondaries. A 52-year-old man diagnosed with lung adenocarcinoma, on oncotherapy with gefitinib had a partial initial response to treatment. Later he was readmitted with seizures and cognitive dysfunction. His initial brain computed tomography (CT) and magnetic resonance imaging (MRI) were normal. However, his later CT images revealed multiple small calcified lesions over both hemispheres and contrast MRI revealed scattered tiny miliary nodules enhanced by gadolinium over bilateral cerebral, cerebellar hemispheres, thalami, and basal ganglia with foci of hypointensity in susceptibility-weighted images (SWI) and phase imaging suggesting calcification. A diagnosis of calcific miliary brain metastasis was made. Miliary calcification as an initial presentation of brain metastases in patients with lung cancer is uncommon. Use of oral tyrosine kinase inhibitor like gefitinib increases the likelihood development of calcific brain metastases due to the prolonged survival time contributed by its use.


Assuntos
Adenocarcinoma de Pulmão , Neoplasias Encefálicas , Neoplasias Pulmonares , Adenocarcinoma de Pulmão/tratamento farmacológico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/tratamento farmacológico , Gefitinibe/uso terapêutico , Humanos , Pulmão/patologia , Neoplasias Pulmonares/secundário , Masculino , Pessoa de Meia-Idade
15.
J Clin Med ; 11(9)2022 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-35566563

RESUMO

Data on the clinical characteristics, severity and management of COVID-19 from the Middle East region, especially the United Arab Emirates (UAE), is very limited. We studied the clinical characteristics, laboratory biomarkers, risk factors for severity and pharmacotherapy of hospitalized COVID-19 patients in this single-center, analytical cross-sectional study conducted in a secondary care hospital of the UAE. A total of 585 patients were included in the study (median age, 49 years (IQR, 39−59); 66% male). Age > 45 years (OR = 2.07, 95% CI: 1.04−4.14, p = 0.040), male gender (OR = 3.15, 95% CI: 1.52−6.51, p = 0.002), presentation symptoms such as fever (OR = 3.68, 95% CI:1.34−10.11, p = 0.011) and shortness of breath/dyspnea (OR = 5.36, 95% CI: 2.69−10.67, p < 0.001), Hb < 13 g/dL (OR = 3.17, 95% CI: 1.51−6.65, p = 0.002), neutrophils > 7 × 103/mcL (OR = 4.89, 95% CI: 1.66−14.37, p=0.004), lymphocytes < 1 × 103/mcL (OR = 7.78, 95% CI: 1.01−60.19, p = 0.049), sodium < 135 mmol/L (OR = 5.42, 95% CI: 1.05−27.95, p = 0.044), potassium < 3.6 mmol/L (OR = 3.36, 95% CI: 1.03−11.01, p = 0.045), urea > 6.5 mmol/L (OR = 3.37, 95% CI: 1.69−6.73, p = 0.001) and LDH > 227 IU/L (OR = 6.26, 95% CI: 1.61−24.32, p = 0.008) were independent predictors of the severity of COVID-19. Antivirals (524, 89.6%) and corticosteroids (358, 61.2%) were prescribed for the management of COVID-19. In conclusion, older age, male gender, presentation symptoms such as fever and dyspnea, low hemoglobin, neutrophilia, lymphopenia, hyponatremia, hypokalemia, elevated levels of urea and lactate dehydrogenase were found to be independent risk factors for severe COVID-19. The pharmacotherapy of COVID-19 patients in our study was diverse, and the medications were prescribed based on the clinical condition of the patients.

17.
Neurol India ; 70(1): 188-196, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35263882

RESUMO

Background: Prediction of outcome of West syndrome (WS) in relation to etiology and electrophysiology remain pertinent challenges. Objective: This study aimed to compare electro-clinical and imaging characteristics between WS of "unknown-etiology"; "symptomatic"WS; to gauge the evolution and impact of electroencephalographic (EEG) patterns on seizure outcomes. Materials and Methods: Electro-clinico-radiological data of 76 children with WS who were followed up for atleast 1 year was collected for reviewing clinical, therapeutic and EEG profiles (sub-typed as typical and modified hypsarrhythmia [HA]). Quantified seizure scores were assessed. Results: Among 76 children included in this retrospective analysis, 31 (40.8%) were of unknown-etiology and 45 (59.2%) were "symptomatic" (structural cause/developmental-encephalopathy). Children with symptomatic WS (p = 0.037), specifically with gliosis on imaging (p = 0.05) and typical HA (including the multifocal subtype; P = 0.023) were more likely to have other seizure types before onset of spasms and exhibit prior delay or regression in milestones (p = 0.017). There was negative correlation between time to diagnosis and reduction in seizure scores (r = -0.32; p = 0.005).Significant reduction was noted in seizure scores with pharmacotherapy, irrespective of etiology (P < 0.001 in unknown-etiology and symptomatic subgroups). Seizure freedom rates did not differ between typical and modified HA groups (p = 0.215) with a higher proportion of children with meaningful reduction in seizure scores in the former sub-group (p = 0.030). Children who failed to achieve seizure remission were more likely to exhibit developmental impairment (p = 0.019). Conclusions: Early diagnosis and initiation of optimal therapy is crucial towards improving outcome, irrespective of etiology (which impacts pre-spasm development) and HA subtypes.


Assuntos
Espasmos Infantis , Criança , Eletroencefalografia , Humanos , Lactente , Encaminhamento e Consulta , Estudos Retrospectivos , Espasmos Infantis/tratamento farmacológico , Resultado do Tratamento
18.
Neurol Sci ; 43(2): 1441-1445, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34993656

RESUMO

Exogenous manganese (Mn) intoxication leads only to neurotoxicity, whereas inherited hypermanganesemia additionally can cause cirrhosis and polycythemia. We report two affected siblings in a family from South India with severe dysarthria, without dysphagia, generalized dystonia, and characteristic "cock-walk" gait which are clinical clues. Genetic study showed homozygous mutation in the first exon of solute carrier family 30 member 10 (SLC30A10) gene (c.134T>C) confirming the diagnosis of inherited hypermanganesaemia with dystonia 1 (HMNDYT1). Characteristic brain MRI finding is involvement of pontine tegmentum on T1 axial images (due to affliction of central tegmental tract [CTT]) with sparing of ventral pons giving rise to "horseshoe moustache" sign. Symmetric hyperintensities in dentate nucleus, globus pallidus, and putamen while relatively sparing caudate nucleus on T1 without signal intensity abnormalities on T2 images are highly suggestive of hypermanganesaemia. Axial diffusion tensor imaging confirmed the "horseshoe moustache" sign to be constituted by the affected CTT. Hypermanganesaemia-induced CTT involvement in T1 needs to be differentiated from the other more common pediatric causes of CTT affliction which are evident on T2 or diffusion weighted images. Identification is crucial as it is a treatable disorder of metal deposition amenable to chelation.


Assuntos
Proteínas de Transporte de Cátions , Imagem de Tensor de Difusão , Criança , Marcha , Humanos , Imageamento por Ressonância Magnética , Manganês/metabolismo , Manganês/toxicidade
19.
Neurology ; 98(11): 462-465, 2022 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-35058340

RESUMO

Pseudodystonia is a term that describes abnormal postures, repetitive movements, or both, where clinical analysis, imaging, laboratory, or electrophysiologic investigations indicate that these movements are not consistent with dystonia. Grisel syndrome (GS), characterized by rotatory subluxation of the atlantoaxial joint (AAJ) due to nontraumatic causes, is a cause of pseudodystonia. GS is seen in children less than 12 years of age and should be suspected in patients with acute onset of painful torticollis. We report 2 girls, aged 9 and 6 years, who developed painful torticollis following upper respiratory tract infection. They were thought to have cervical dystonia and referred to a movement disorder specialist for botulinum neurotoxin therapy (BoNT). MRI of the cervical spine showed type I and type II rotary AAJ subluxation, respectively, which confirmed the diagnosis of GS. Short tau inversion recovery hyperintensity was noted suggesting AAJ edema without any bone erosion or cord compression. Abruptness of onset, presence of severe pain, resistance to passive neck movements, fixed postures present equally in rest and action, absence of sensory trick, and persistence in sleep favor pseudodystonia. Both subjects improved with conservative treatment, which included temporary immobilization of the cervical spine and anti-inflammatory drugs. Early identification and treatment is imperative to avoid neurologic complications, like high cervical compressive myelopathy, which can lead to quadriplegia and respiratory distress. Prominent sternocleidomastoid contraction ipsilateral to the rotated chin helps to clinically identify GS.


Assuntos
Articulação Atlantoaxial , Distúrbios Distônicos , Luxações Articulares , Torcicolo , Articulação Atlantoaxial/diagnóstico por imagem , Vértebras Cervicais , Criança , Distúrbios Distônicos/complicações , Feminino , Humanos , Luxações Articulares/complicações , Torcicolo/diagnóstico por imagem , Torcicolo/tratamento farmacológico
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