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Non-Invasive Cerebellar Stimulation in Hereditary Cerebellar Ataxias

Hereditary cerebellar ataxias (HCA) are a heterogeneous group of neurological disorders with several underlying genetic mechanisms. The available treatments are still scarce, however the growing interest in cerebellar neurostimulation has revealed promising results. We aimed to review the published studies on transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) in HCA. A li...

Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease

Introduction: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients.Methods: Patients were recruited from a neuroimmunology tertiary center. Clinical, laboratory, neuroimaging and...

Síndrome de Stiff-Person: Revisão

Stiff-person syndrome is a rare autoimmune neurologic disorder characterized by progressive muscular rigidity and painful muscle spasms predominantly affecting the axial and the proximal limb muscles. Most patients with stiff-person syndrome have antibodies directed against the glutamic acid decarboxylase, the rate-limiting enzyme for the production of inhibitory neurotransmitter gamma-aminobutyric acid. Parane...

Doenças mitocondriais na era da sequenciação de nova geração: estudo de 450 doe...

As doenças mitocondriais (DM) são doenças raras, clínica e geneticamente heterogéneas, de difícil diagnóstico, para as quais não existe uma terapia eficaz. O desenvolvimento da tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular deste grupo de doenças, permitindo a identificação de novos genes associados a estas patologias. Nesta nova era genética, através da utilização da tecn...

Hybrid Deep Brain Stimulation for Parkinson’s Disease and Dystonia Improves Sid...

Introduction: Deep brain stimulation (DBS) in movement disorders does not always achieve optimal symptomatic control. Most common issues involve suboptimal electrode positioning and target stimulation and troublesome side effects limiting the therapeutic window. Recently approved implantable pulse generators (IPG) allow for pulse widths lower than 60 μs, increasing the therapeutic window, and current steering. ...

Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objectiv...

Molecular characterization of Portuguese patients with hereditary cerebellar at...

Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the ma...

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case r...

Background: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. Case report: We describe a patient, homozygous for a 873 GAA expansion in the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness,...

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ...

Brain Calcifications in Complex Sexual Aneuploidy