Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 6 de 6
Filtrar
1.
Brain Sci ; 13(10)2023 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-37891834

RESUMO

(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is to describe vestibular, gait, and speech alterations in CANVAS via a systematic approach. (3) Methods: All patients (n = 5) underwent a standardized clinical-instrumental examination, including the perceptual and acoustic analysis of speech, instrumental gait, and balance analysis (posturographic data were acquired using a force plate [Kistler, Winterthur, Switzerland] while 3D gait analysis, inclusive of surface electromyography, was acquired using a motion capture system [SMART DX, BTS Bioengineering, Milan, Italy], a wireless electromyograph [FreeEMG, BTS Bioengineering, Milan, Italy]), and vestibular assessment with video-oculography. (4) Results: Five patients were included in the analysis: three females (patients A, B, C) and two males (patients D and E) with a mean age at evaluation of 62 years (SD ± 15.16, range 36-74). The mean age of symptoms' onset was 55.6 years (SD ± 15.04, range 30-68), and patients were clinically and instrumentally evaluated with a mean disease duration of 6.4 years (SD ± 0.54, range 6-7). Video-Frenzel examination documented spontaneous downbeat nystagmus enhanced on bilateral gaze in all patients, except for one presenting with slight downbeat nystagmus in the supine position. All patients exhibited different degrees of symmetrically reduced VOR gain for allsix semicircular canals on the video-head impulse test and an unexpectedly normal ("false negative") VOR suppression, consistent with combined cerebellar dysfunction and bilateral vestibular loss. Posturographic indices were outside their age-matched normative ranges in all patients, while 3D gait analysis highlighted a reduction in ankle dorsiflexion (limited forward rotation of the tibia over the stance foot during the stance phase of gait and fatigue of the dorsiflexor muscles) and variable out-of-phase activity of plantar flexors during the swing phase. Finally, perceptual-acoustic evaluation of speech showed ataxic dysarthria in three patients. Dysdiadochokinesis, rhythm instability, and irregularity were observed in the oral diadochokinesis task. (5) Conclusions: CANVAS is a recently discovered syndrome that is gaining more and more relevance within late-onset ataxias. In this paper, we aimed to contribute to a detailed description of its phenotype.

2.
Brain Behav ; 13(7): e3060, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37264751

RESUMO

BACKGROUND: Genetic risk factors impact around 15% of Parkinson's disease (PD) patients and at least 23 variants have been identified including Glucocerebrosidase (GBA) gene variants. Using different clinical and instrumental qualitative-based data, various studies have been published on GBA-PD cohorts which suggested possible differences in dopaminergic nigrostriatal denervation pattern, particularly in caudate and putamen nuclei. METHODS: This retrospective study included two consecutive homogenous cohorts of GBA-PD and idiopathic (I-PD) patients. Each consecutive GBA-PD patient has been matched with a 1:1 pairing method with a consecutive I-PD subject according to age, age at disease onset, sex, Hoehn & Yahr (H&Y) staging scale and comorbidity level (CCI). Semiquantitative volumetric data by the DaTQUANTTM software integrated in the DaTSCAN exam performed at time of the diagnosis (SPECT imaging performed according to current guidelines of I-123 FPCIT SPECT imaging) were extrapolated. Bilateral specific binding ratios (SBR) at putamen and caudate levels were calculated, using the occipital lobes uptake. The Mann-Whitney test was performed to compare the two cohorts while the Spearman's test was used to find correlations between motor and volumetric data in each group. Bonferroni correction was used to account for multiple comparisons. RESULTS: Two cohorts of 25 patients each (GBA-PD and I-PD), were included. By comparing GBA-PD and I-PD patients, lower SBR values were found in the most affected anterior putamen and left caudate of the GBA-PD cohort. Furthermore, in the GBA-PD cohort the SBR of the most affected posterior putamen negatively correlated with the H&Y scale. However, none of these differences or correlations remained significant after Bonferroni correction for multiple comparisons. CONCLUSIONS: We observed differences in SBR values in GBA-PD patients compared with I-PD. However, these differences were no longer significant after Bonferroni multiple comparisons correction highlighting the need for larger, longitudinal studies.


Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/genética , Doença de Parkinson/metabolismo , Glucosilceramidase/genética , Imageamento Dopaminérgico , Estudos de Casos e Controles , Estudos Retrospectivos , Mutação
4.
J Neurosurg Spine ; 30(2): 259-267, 2018 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-30497134

RESUMO

OBJECTIVEThe purpose of this study was to evaluate the technical feasibility, accuracy, and relevance on surgical outcome of D-wave monitoring combined with somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) during resection of intradural extramedullary (IDEM) spinal tumors.METHODSClinical and intraoperative neurophysiological monitoring (IONM) data obtained in 108 consecutive patients who underwent surgery for IDEM tumors at the Institute for Scientific and Care Research "ASMN" of Reggio Emilia, Italy, were prospectively entered into a database and retrospectively analyzed. The IONM included SSEPs, MEPs, and-whenever possible-D-waves. All patients were evaluated using the modified McCormick Scale at admission and at 3, 6, and 12 months of follow-up .RESULTSA total of 108 patients were included in this study. A monitorable D-wave was achieved in 71 of the 77 patients harboring cervical and thoracic IDEM tumors (92.2%). Recording of D-waves in IDEM tumors was significantly associated only with a preoperative deeply compromised neurological status evaluated using the modified McCormick Scale (p = 0.04). Overall, significant IONM changes were registered in 14 (12.96%) of 108 patients and 9 of these patients (8.33%) had permanent loss of at least one of the 3 evoked potentials. In 7 patients (6.48%), the presence of an s18278 caudal D-wave was predictive of a favorable long-term motor outcome even when the MEPs and/or SSEPs were lost during IDEM tumor resection. However, in 2 cases (1.85%) the D-wave permanently decreased by approximately 50%, and surgery was definitively abandoned to prevent permanent paraplegia. Cumulatively, SSEP, MEP, and D-wave monitoring significantly predicted postoperative deficits (p = 0.0001; AUC = 0.905), with a sensitivity of 85.7% and a specificity of 97%. Comparing the area under the receiver operating characteristic curves of these tests, D-waves appeared to have a significantly greater predictive value than MEPs and especially SSEPs alone (0.992 vs 0.798 vs 0.653; p = 0.023 and p < 0.001, respectively). On multiple logistic regression, the independent risk factors associated with significant IONM changes in the entire population were age older than 65 years and an anterolateral location of the tumor (p < 0.0001).CONCLUSIONSD-wave monitoring was feasible in all patients without severe preoperative motor deficits. D-waves demonstrated a statistically significant higher ability to predict postoperative deficits compared with SSEPs and MEPs alone and allowed us to proceed with IDEM tumor resection, even in cases of SSEP and/or MEP loss. Patients older than 65 years and with anterolateral IDEM tumors can benefit most from the use of IONM.


Assuntos
Potenciais Somatossensoriais Evocados/fisiologia , Monitorização Neurofisiológica Intraoperatória , Neoplasias da Medula Espinal/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Potencial Evocado Motor/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adulto Jovem
5.
Clin Neurol Neurosurg ; 130: 140-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25618840

RESUMO

BACKGROUND: While intraoperative neurophysiological monitoring (IOM) for intramedullary tumors has become a standard in neurosurgical practice, IOM for intradural extramedullary tumors (IDEMs) is still under debate. The aim of this study is to evaluate the role of IOM during surgery for IDEMs. METHODS: From March 2008 to March 2013, 68 patients had microsurgery with IOM for IDEMs (31 schwannomas, 25 meningiomas, 6 ependymomas of the cauda/filum terminalis, 4 dermoid cysts and 2 other lesions). The IOM included somatosensory evoked potentials (SEPs), motor evoked potentials (MEPs), and--in selected cases--D-waves. Also preoperative and postoperative neurophysiological assessment was performed with SEPs and MEPs. All patients were evaluated at admission and at follow up (minimum 6 months) with the Modified McCormick Scale (mMCs). RESULTS: Three different IOM patterns were observed during surgery: no change in evoked potentials (63 cases), transitory evoked potentials change (3 cases) and loss of evoked potentials (2 cases). In the first setting surgery was never stopped and a radical tumor removal was achieved (no stop surgery group). In 3 cases of transitory evoked potentials change, surgery was temporarily halted but the tumors were at the end completely removed (stop and go surgery group). In 2 more patients the loss of evoked potentials led to an incomplete resection (stop surgery group). No patients presented a worsening of the pre-operative clinical conditions (at admission 47 patients presented mMCs 1-2 and 21 patients mMCs 3-5, while at follow up 62 patients are mMCS 1-2 and 6 patients mMCs 3-5). CONCLUSIONS: In our series significant IOM changes occurred in 5 out of 68 patients with IDEMs (7.35%), and it is conceivable that the modification of the surgical strategy - induced by IOM - prevented or mitigated neurological injury in these cases. Vice versa, in 63 patients (92.65%) IOM invariably predicted a good neurological outcome. Furthermore this technique allowed a safer tumor removal in IDEMs placed in difficult locations as cranio-vertebral junction or in antero/antero-lateral position (where rotation of spinal cord can be monitored) and even in case of tumor adherent to the spinal cord without a clear cleavage plane.


Assuntos
Potencial Evocado Motor/fisiologia , Potenciais Somatossensoriais Evocados/fisiologia , Monitorização Neurofisiológica Intraoperatória , Neoplasias da Medula Espinal/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Ependimoma/cirurgia , Feminino , Humanos , Monitorização Neurofisiológica Intraoperatória/métodos , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/métodos , Adulto Jovem
6.
J Neurol Sci ; 263(1-2): 194-7, 2007 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-17707409

RESUMO

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent sensory or motor dysfunction. In 85% of HNPP cases the genetic defect is a 1.4 Mb deletion on chromosome 17p11.2, encompassing the PMP22 gene. Point mutations in the PMP22 gene responsible for HNPP phenotypes are rare. We investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT). This novel mutation creates a shift on the reading frame starting at codon 4 and leads to the introduction of a premature stop at codon 6.


Assuntos
Neuropatia Hereditária Motora e Sensorial/genética , Proteínas da Mielina/genética , Paralisia/genética , Mutação Puntual , Pressão , Adolescente , Cromossomos Humanos Par 17 , Análise Mutacional de DNA/métodos , Éxons/genética , Saúde da Família , Feminino , Neuropatia Hereditária Motora e Sensorial/complicações , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Paralisia/complicações
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...