Accès ouvert
2026
article
OpenAlex
Daniela Samaniego, Silvia Enríquez-Calzada, Laura Domingo, Mar Armengol et autres
Background Parkinson’s disease (PD) is a progressive neurodegenerative disorder causing a variety of motor and non-motor symptoms. To date, no disease modifying treatment exists, and diagnosis is based on the manifestation of the clinical motor symptoms, which occurs when the neurodegenerative process …
es, ps
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Accès ouvert
2026
article
OpenAlex
Robin Wijngaard, Lucía Dougherty‐de Miguel, German M. Demidov, Galuh Astuti et autres
BACKGROUND: NKX2-1-related disorders (NKX2-1-RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2-1 coding variants are not detected, and variants outside the NKX2-1 locus have been reported. OBJECTIVE: The …
nl, ps, es, de
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Accès ouvert
2026
article
OpenAlex
Cèlia Painous, Andrea Martínez, Ana Cámara, Manel Fernández et autres
Whether synucleinopathy-like (syn-like) symptoms match biologically defined synuclein seeding in PSP-parkinsonism (PSP-P) vs. Parkinson's disease (PD) remains unexplored. We studied 80 subjects: 20 PSP-P, 20 PSP-Richardson-syndrome(PSP-RS), 20 PD, and 20 controls(CS). Procedures included specific smell-testing, structured interview by a sleep specialist, orthostatic-stress …
es
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Accès ouvert
2026
article
OpenAlex
Clément Tarrano, Cecile Gallea, Asya Ekmen, Cécile Delorme et autres
BACKGROUND: Hyperkinetic movement disorders arise from dysfunction within cortico-basal ganglia-cerebellar loops. They frequently involve psychiatric and cognitive symptoms, reflecting impairment of both motor and non-motor domains within these loops. ADCY5 (MxMD-ADCY5) and SGCE (MYC/DYT-SGCE) related movement disorders are childhood-onset monogenic hyperkinetic conditions, …
fr, ie, gb, it, de, es
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2026
article
OpenAlex
Laura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martín-Jiménez, María Navarro-Riquelme et autres
Background and Objectives: -related disorders exhibit marked phenotypic heterogeneity and frequent clinical overlap, often leading to delayed diagnosis. A precise delineation of their clinical spectrum, natural history, and the identification of reliable biomarkers is essential to improve diagnostic accuracy and guide therapeutic …
es
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Accès ouvert
2025
article
OpenAlex
Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucía Dougherty‐de Miguel, Julia Ferrero Turrión et autres
BACKGROUND: Deep brain stimulation of the globus pallidus internus (DBS-GPi) has shown efficacy in adult patients with SGCE-related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. OBJECTIVES: The aim was to evaluate motor and non-motor outcomes following DBS-GPi …
es, gb, us
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Accès ouvert
2025
article
OpenAlex
Maria Vanegas, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Feline Hamami et autres
BACKGROUND: Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. OBJECTIVE: To evaluate the diagnostic and treatment strategies in MDS used by experts from the European Reference Network for rare neurological diseases (ERN-RND), and to …
gb, es, de, nl
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Accès ouvert
2025
article
OpenAlex
Laura Gómez‐Dabó, Arnau Llauradó, Daniel Sánchez‐Tejerina, Victoria González et autres
INTRODUCTION: We present a rare case of acute immune-mediated polyradiculoneuritis, a Guillain-Barré Syndrome (GBS) variant, manifesting as ophthalmoparesis-ataxia, facial diplegia, and acute bulbar palsy, accompanied by a unique autoimmune profile. CLINICAL CASE: A 75-year-old female developed rapidly progressive symptoms, including bilateral non-reactive …
es
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Accès ouvert
2025
article
OpenAlex
Valeria De Francesch, Ana Cazurro‐Gutiérrez, Elze R. Timmers, Gemma Español‐Martín et autres
Resumen Objetivo Investigar la progresión natural de la distonía mioclónica causada por variantes patogénicas de SGCE desde el inicio de los síntomas en la infancia hasta la edad adulta temprana. Métodos En dos cohortes de pacientes de España y los Países Bajos, …
es, nl
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Accès ouvert
2024
article
OpenAlex
Valeria De Francesch, Ana Cazurro‐Gutiérrez, Elze R. Timmers, Gemma Español‐Martín et autres
AIM: To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood. METHOD: Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change …
it, es, nl, de
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Accès ouvert
2023
article
OpenAlex
Andreu Vilaseca, Elena A. Martínez-Sáez, Victoria González, Cristina Auger et autres
Paraneoplastic cerebellar degeneration (PCD) has been described in a few isolated patients with melanoma and different neuronal antibodies (Yo and CARPVIII). 1 A 63-year-old woman developed a subacute severe pancerebellar syndrome.At clinical examination, she exhibited bilateral gaze-evoked nystagmus, down-beat nystagmus, left dysmetria, …
es
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Accès ouvert
2023
article
OpenAlex
Marc Rodrigo‐Gisbert, Arnau Llauradó, Andrés Baucells, Cristina Auger et autres
We present the case of an 82-year-old woman with subacute altered mental status, oculomotor disturbances, and ataxia. On examination, she exhibited bilateral ptosis, complete horizontal ophthalmoplegia, and limited vertical eye movements during upgaze associated with prominent truncal ataxia. Cerebral MRI showed a …
es
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