The enduring enigma of sporadic chorea: A single center case series.

Unlabelled: Chorea can have a wide variety of causes including neurodegenerative, pharmacological, structural, metabolic, infectious, immunologic and paraneoplastic processes. We reviewed the clinical records of patients with apparently sporadic choreic movements and no relevant family history, who presented to our neurology department (Hospital Fundación Jimenez Diaz) between 1991 and 2022. We detected 38 cases of apparent sporadic chorea (ASC); Our analysis revealed 5 cases of genetic chorea (including 3 cases with Huntington's disease) while 6 cases were autoimmune/hematological; 6 drug-related chorea, 5 metabolic-vascular, 5 due to miscellaneous conditions and 4 were of mixed etiology.

Perampanel: Medical Alternative for Essential Tremor?

Objectives: The aim of this study was to assess the safety and efficacy of perampanel in patients with refractory essential tremor (ET).

Methods: We recruited patients from our movement disorders clinic with the diagnosis of severe refractory ET, and perampanel 4 mg at night was initiated.Assessments were conducted at baseline and after 1 month of treatment with perampanel 4 mg/d.

Clinical Translation of Three-Dimensional Scar, Diffusion Tensor Imaging, Four-Dimensional Flow, and Quantitative Perfusion in Cardiac MRI: A Comprehensive Review.

Cardiovascular magnetic resonance (CMR) imaging is a versatile tool that has established itself as the reference method for functional assessment and tissue characterisation. CMR helps to diagnose, monitor disease course and sub-phenotype disease states. Several emerging CMR methods have the potential to offer a personalised medicine approach to treatment.

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Objective: We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.

Methods: A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing.

A genetic analysis of a Spanish population with early onset Parkinson's disease.

Introduction: Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson's disease in a cohort from central Spain.

Methods/patients: We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.

Circadian Rhythm, Cognition, and Mood Disorders in Huntington's Disease.

Background: Sleep disturbances are an early and prominent feature of Huntington's disease (HD).

Objective: The current study investigated the relation between sleep quality impairment and cognitive and psychiatric symptoms in patients with HD.

Methods: Sleep quality, daytime sleepiness, and neurocognitive symptoms were assessed in 38 mutation carriers (23 premanifest and 15 early stage) and 38 age-and sex-matched controls using standardized questionnaires (the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, the cognitive section of the Unified Huntington's Disease Rating Scale, the Hospital Anxiety and Depression Scale, and the Irritability Scale).

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Background: Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500). All three are X-linked recessively inherited and males affected display variable degree of central and peripheral neuropathy. We applied whole exome sequencing to a three-generation family with optic atrophy followed by retinitis pigmentosa (RP) in all three cases, and ataxia, progressive peripheral neuropathy and hearing loss with variable presentation.

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

Background: A recent genome-wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five single nucleotide polymorphisms (SNPs) previously reported with high signals as putative genetic risk factors for cervical dystonia in a British GWAS, including two located in the NALCN gene region.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Objective: To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype.

Design: Case series.

Participants: Three hundred forty-seven unrelated families affected by arRP and 33 unrelated families affected by retinitis pigmentosa (RP) plus noncongenital and progressive hearing loss, ataxia, or both, respectively.

What factors influence motor complications in Parkinson disease?: a 10-year prospective study.

The causes and mechanism behind motor complications in Parkinson disease (PD) are still a subject of debate. Several factors including age at onset, evolution in years, and initial medication can influence the onset and severity of motor complications in PD.We studied patients with recent diagnosis of PD who were followed up prospectively for 10 years.

Nonmotor disorders and their correlation with dopamine: can they be treated by currently available methods?

Many of the nonmotor symptoms in Parkinson disease have a dopaminergic basis, whether the result of dopaminergic degeneration or as a result of dopaminergic treatment. In the latter case, the symptoms may be genuine side effects of drugs (hypotension, pathologic gambling, etc.) or they may be secondary either to the pathoplastic effect they have on the natural course of the disease (nonmotor fluctuations) or to the lack of dopamine (apathy, depression, dopamine withdrawal syndrome, etc.

Treatment of Parkinson disease, time and dosage: "does simple dosage facilitate compliance and therapeutic goals?".

Current available treatment for Parkinson disease has many drawbacks: single action on the nigrostriatal pathway, no halt of disease progression, pulsatile dopaminergic stimulation, complex treatment regimens, and motor complications. Compliance with treatment may be irregular in a variable number of patients. Factors such as age, education, complexity of posology, stage of disease, disease comprehension, cognitive function, or family support significantly influence compliance either in a positive or negative way.

Evolution of dose and response to botulinum toxin A in cervical dystonia: a multicenter study.

Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten tertiary centers.