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1.
Eur J Neurol ; 30(6): 1667-1675, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36916668

RESUMO

BACKGROUND AND PURPOSE: The monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation-dependent probe amplification (MLPA) as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with suspected Mendelian Parkinson's disease. METHODS: In all, 567 patients with parkinsonism from 547 unrelated families were recruited and two MLPAs were performed for each. All pathogenic G2019S variants in the LRRK2 gene were confirmed by Sanger sequencing and the PRKN gene was screened for a second mutation in the cases of one heterozygous structural variant in the PRKN gene. RESULTS: The performance of MLPA was 51/567 (9%) for the entire cohort and included 27 (4.8%) LRRK2 G2019S mutations, 19 (3.4%) PRKN mutations and five (0.9%) SNCA locus duplications. The variables significantly associated with a positive test in the total cohort were North African ancestry (p < 0.0001), female sex (p = 0.004) and younger age at onset (p < 0.0008). CONCLUSIONS: Retrospective analysis allowed us to refine our indication criteria: (i) North African ancestry, (ii) an age at onset <40 years or (iii) a familial history of parkinsonism with at least one affected first-degree relative. Our study highlights the interest of MLPA testing for other parkinsonism cases with a family history, especially for patients with dementia with Lewy bodies or a multiple-system-atrophy-like phenotype.


Assuntos
Doença de Parkinson , Transtornos Parkinsonianos , Humanos , Feminino , Doença de Parkinson/diagnóstico , Doença de Parkinson/genética , Estudos Retrospectivos , Reação em Cadeia da Polimerase Multiplex , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/genética , Mutação/genética , Técnicas de Diagnóstico Molecular
2.
Rev Neurol (Paris) ; 178(6): 591-602, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34916042

RESUMO

PURPOSE: Ultrasound-guided injections of botulinum neurotoxin in cervical dystonia have a number of theoretical advantages. However, their action has never been compared to that of non-guided injections. The objectives of the study were to compare the outcome of botulinum neurotoxin type A treatment in patients with idiopathic, focal cervical dystonia, according to two methods: inspection and palpation of anatomical landmarks (non-guided group) or ultrasound guidance (ultrasound-guided group). METHODS: We included consecutive patients in this single-center, prospective, real-life, non-randomized study. The outcomes were evaluated one month after the injections: Cervical Dystonia Impact Profile 58 (main outcome), Toronto Western Spasmodic Torticollis Rating Scale-2 (pain and disability subscores), Toronto Western Spasmodic Torticollis Rating Scale-PSYCH, patient-rated Clinical Global Impression - Improvement and adverse events. We used propensity score methods for statistical analysis; ten predefined confounding factors were used to build the propensity score. RESULTS: Sixty-three patients were included in the non-guided group, and 60 other patients in the ultrasound-guided group. We found no difference in main and secondary outcomes between the two study groups. CONCLUSION: This is the first direct comparison between ultrasound-guided and non-guided botulinum neurotoxin type A injections in patients with cervical dystonia. We hypothesize that ultrasound guidance made it possible to obtain the same results in the most severe (or the most demanding) patients as in the best responders. Further studies are still needed to assess the impact of botulinum neurotoxin injections into deep cervical muscles.


Assuntos
Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Torcicolo , Toxinas Botulínicas Tipo A/uso terapêutico , Humanos , Fármacos Neuromusculares/uso terapêutico , Estudos Prospectivos , Torcicolo/diagnóstico por imagem , Torcicolo/tratamento farmacológico , Resultado do Tratamento , Ultrassonografia
5.
Rev Neurol (Paris) ; 176(4): 268-276, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31668287

RESUMO

BACKGROUND: Treatment with levodopa-carbidopa intestinal gel (LCIG) can effectively relieve motor and non-motor symptoms in advanced Parkinson's disease (PD). However, adverse events (AEs) are frequent. OBJECTIVE: To describe AEs associated with LCIG treatment and the main reasons for treatment discontinuation. We also looked for factors that were potentially predictive of serious AEs and assessed the effectiveness of and satisfaction with LCIG. METHOD: We retrospectively analyzed data on AEs in patients treated with LCIG at a French university medical center. For patients still receiving treatment at last follow-up, effectiveness was assessed according to the Clinical Global Impression (CGI) scale and the Movement Disorders Society - Unified Parkinson's Disease Rating Scale motor score. RESULTS: Of the 63 patients treated with LCIG for a mean (range) of 19 months (8-47), 57 (90%) experienced at least one AE (340 AEs in total). Most of the AEs (in 69.8% of the patients) were related to percutaneous endoscopic gastrostomy with a jejunal tube (PEG-J) or affected the gastrointestinal tract (granuloma, leakage, or a local infection). Device-related AEs (such as PEG-J removal and device occlusion) were frequent (in 63.5% of patients). Forty-three patients (68%) required at least one additional endoscopic procedure. Dopatherapy-related AEs occurred in 30 patients (48%). Most of the AEs occurred long after treatment initiations, and only a small proportion led to discontinuation. On the CGI scale, 53 patients (84.4%) considered that their condition had improved during LCIG treatment. CONCLUSION: Despite the high frequency of AEs, patients with advanced PD gain clinical benefit from treatment with LCIG. This treatment requires a competent, multidisciplinary team on site.


Assuntos
Carbidopa/administração & dosagem , Carbidopa/efeitos adversos , Levodopa/administração & dosagem , Levodopa/efeitos adversos , Doença de Parkinson/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Antiparkinsonianos/administração & dosagem , Antiparkinsonianos/efeitos adversos , Antiparkinsonianos/farmacocinética , Carbidopa/farmacocinética , Cateteres de Demora/efeitos adversos , Combinação de Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Endoscopia Gastrointestinal/efeitos adversos , Endoscopia Gastrointestinal/instrumentação , Feminino , França/epidemiologia , Gastrostomia/efeitos adversos , Géis , Humanos , Bombas de Infusão/efeitos adversos , Absorção Intestinal , Levodopa/farmacocinética , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Doença de Parkinson/epidemiologia , Doença de Parkinson/metabolismo , Doença de Parkinson/patologia , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do Tratamento
6.
Rev Neurol (Paris) ; 151(11): 661-6, 1995 Nov.
Artigo em Francês | MEDLINE | ID: mdl-8745630

RESUMO

We describe 9 patients with radiation myelopathy treated by hyperbaric oxygenation (HBO). In this retrospective study, six out of nine (66%) could have been stabilized or improved by HBO. Physiopathological mechanisms of radiation myelopathy remain controversial and incompletely known. We discuss the putative mechanisms of the beneficial action of HBO on radiation myelopathy. Controlled studies are required to clarify the interest of HBO in this disease.


Assuntos
Doenças da Medula Óssea/terapia , Oxigenoterapia Hiperbárica , Lesões por Radiação/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças da Medula Óssea/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lesões por Radiação/complicações , Radioterapia/efeitos adversos , Estudos Retrospectivos , Fatores de Tempo
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