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Background: Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis. Cases: We describe three patients with heterozygous variants in DHDDS and five with variants affecting NUS1. They bear a remarkably similar phenotype of a movement disorder dominated by multifocal myoclonus. Diagnostic clues include myoclonus exacerbated by action and facial involvement, and slowly progressive or stable, gait ataxia with disproportionately impaired tandem gait. Myoclonus is confirmed with neurophysiology, including EMG of facial muscles. Literature Review: Ninety‐eight reports of heterozygous variants in DHDDS, NUS1 and chromosome 6q22.1 structural alterations spanning NUS1, confirm the convergent phenotype of hypotonia at birth, developmental delay, multifocal myoclonus, ataxia, dystonia and later parkinsonism with or without generalized epilepsy. Other features include periodic exacerbations, stereotypies, anxiety, and dysmorphisms. Although their gene products contribute to dolichol biosynthesis, a key step in N‐glycosylation, transferrin isoform profiles are typically normal. Imaging is normal or non‐specific. Conclusions: Recognition of their shared phenotype may expedite diagnosis through chromosomal microarray and by including DHDDS/NUS1 in movement disorder gene panels. [ABSTRACT FROM AUTHOR]

Isolated Craniocervical Dystonia Without Initial Neuropsychiatric Manifestations Associated with NMDA-Receptor Antibodies We describe a patient presenting with isolated craniocervical dystonia and serum and cerebrospinal fluid (CSF) NMDAR antibody positivity, without other manifestations of encephalitis at presentation. Keywords: NMDA; craniocervical dystonia; autoimmune encephalitis EN NMDA craniocervical dystonia autoimmune encephalitis 680 682 3 04/18/23 20230401 NES 230401 N-methyl-D-aspartate receptor (NMDAR) encephalitis classically manifests as varying combinations of neuropsychiatric disturbance, autonomic dysfunction, hypoventilation, and salient movement disorders. [Extracted from the article]

Background: Variants in EIF2AK2 have been recently associated with a spectrum of neurological disease encompassing isolated dystonia to fever‐related neurological decompensation, movement disorders and leukodystrophy. Case: A 32‐year old patient presented with childhood‐onset episodes of neurological decompensation after febrile illness, progressive anarthria, dystonia and spasticity. The T2/FLAIR MRI showed bilateral posterolateral putamen hyperintensities and white matter changes suggestive of leukodystrophy. Initial extensive metabolic workup and whole genome sequencing (WGS) was unremarkable. Re‐analysis of the WGS data revealed a variant in exon 3 of the EIF2AK2 gene [(NM_001135651.3): c.92C > G (p.Pro31Arg)]. EIF2AK2‐associated disorders should be incorporated into the differential diagnosis of the syndrome of fever‐related neurological decompensation with movement disorders, especially in the presence of abnormal neuroimaging. Literature review: Disease‐causing variants in EIF2AK2 have been reported in 24 individuals from 16 families in the literature to date. Two broad phenotypes have been described, including: (1) childhood‐onset generalized dystonia and a normal brain MRI; and (2) early childhood‐onset developmental delay combined with movement disorders, spasticity, and seizures in some. Notably, 92% of these patients have neurological deterioration after febrile illness or other physiological stress. Hypomyelination or delayed myelination and thin corpus callosum are seen in most patients and lower medullary lessions are common. Basal ganglia lesions have been reported previously in one case. Conclusions: EIF2AK2‐associated disorders should be incorporated into the differential diagnosis of the syndrome of fever‐related neurological decompensation with movement disorders, especially in the presence of abnormal neuroimaging. [ABSTRACT FROM AUTHOR]

Genetic early-onset parkinsonism presenting from infancy to adolescence (≤21 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is genetically heterogeneous, with many causative genes already known. With the increased use of next-generation sequencing in clinical practice, there have been novel and unexpected insights into phenotype-genotype correlations and the discovery of new disease-causing genes. It is now recognized that mutations in a single gene can give rise to a broad phenotypic spectrum and that, conversely different genetic disorders can manifest with a similar phenotype. Accurate phenotypic characterization remains an essential step in interpreting genetic findings in undiagnosed patients. However, in the past decade, there has been a marked expansion in knowledge about the number of both disease-causing genes and phenotypic spectrum of early-onset cases. Detailed knowledge of genetic disorders and their clinical expression is required for rational planning of genetic and molecular testing, as well as correct interpretation of next-generation sequencing results. In this review we examine the relevant literature of genetic parkinsonism with ≤21 years onset, extracting data on associated movement disorders as well as other neurological and imaging features, to delineate syndromic patterns associated with early-onset parkinsonism. Excluding PRKN (parkin) mutations, >90% of the presenting phenotypes have a complex or atypical presentation, with dystonia, abnormal cognition, pyramidal signs, neuropsychiatric disorders, abnormal imaging and abnormal eye movements being the most common features. Furthermore, several imaging features and extraneurological manifestations are relatively specific for certain disorders and are important diagnostic clues. From the currently available literature, the most commonly implicated causes of early-onset parkinsonism have been elucidated but diagnosis is still challenging in many cases. Mutations in ∼70 different genes have been associated with early-onset parkinsonism or may feature parkinsonism as part of their phenotypic spectrum. Most of the cases are caused by recessively inherited mutations, followed by dominant and X-linked mutations, and rarely by mitochondrially inherited mutations. In infantile-onset parkinsonism, the phenotype of hypokinetic-rigid syndrome is most commonly caused by disorders of monoamine synthesis. In childhood and juvenile-onset cases, common genotypes include PRKN, HTT, ATP13A2, ATP1A3, FBX07, PINK1 and PLA2G6 mutations. Moreover, Wilson's disease and mutations in the manganese transporter are potentially treatable conditions and should always be considered in the differential diagnosis in any patient with early-onset parkinsonism. [ABSTRACT FROM AUTHOR]

Bobble-head doll syndrome (BHDS) is a rare entity, characterized by antero-posterior head bobbing, which is of the type 'yes-yes.' Less frequently, having a head movement of the type 'no-no' is described. We report an unusual case of an 80-year-old man with a cystic mass of the lamina quadrigemina, extending to the posterior fossa. We conclude that ventriculocystocisternotomy associated with a cystoperitoneal shunt is an effective treatment for a symptomatic giant arachnoid cyst in the lamina quadrigemina. [ABSTRACT FROM AUTHOR]

Clinico-radiological correlation studies of patients with pallidal lesions have shown that there are 2 major associated syndromes: dystonia and parkinsonism. Hemidystonia and generalized dystonia can develop after contralateral or bilateral lesions of the globus pallidus, respectively.[6] According to Davison's clinical description, only 1 of the patients had abnormal postures suggestive of lower limb dystonia. Davison's observation of a distinct syndrome of parkinsonism and pyramidal impairment, however, remains clinically useful despite being inaccurately named and should be revised simply to the concept and terminology of parkinsonism-pyramidal syndromes. Where dystonia, with or without parkinsonism, is the dominant movement disorder occurring with pyramidal signs, the syndromic term dystonia with spasticity (with or without parkinsonism) has previously been suggested,[1] although to align the two, dystonia-pyramidal syndrome could easily be substituted. [Extracted from the article]

Copyright of Archivos de Neurociencias is the property of Instituto Nacional de Neurologia y Neurocirugia, Departamento de Publicaciones Cientificas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Parkinson's disease (PD) is a neurodegenerative disease. During its progression have some clinical properties as dysphagia, immobility, depression and dementia may alter food intake, contributing to malnutrition. This research aims to determine the prevalence of overweight and obesity in a sample of PD patients treated at the Clinic of abnormal movements in the National Institute of Neurology and Neurosurgery, and comparative analysis. We studied 177 patients with PD who met Brain Bank Queen Square and 177 matched healthy controls. Overweight and obesity are common among Mexican patients with PD, while the low weight is almost negligible. [ABSTRACT FROM AUTHOR]

Copyright of Archivos de Neurociencias is the property of Instituto Nacional de Neurologia y Neurocirugia, Departamento de Publicaciones Cientificas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Archivos de Neurociencias is the property of Instituto Nacional de Neurologia y Neurocirugia, Departamento de Publicaciones Cientificas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Variants in EIF2AK2 have been recently associated with a spectrum of neurological disease encompassing isolated dystonia to fever-related neurological decompensation, movement disorders and leukodystrophy., Case: A 32-year old patient presented with childhood-onset episodes of neurological decompensation after febrile illness, progressive anarthria, dystonia and spasticity. The T2/FLAIR MRI showed bilateral posterolateral putamen hyperintensities and white matter changes suggestive of leukodystrophy. Initial extensive metabolic workup and whole genome sequencing (WGS) was unremarkable. Re-analysis of the WGS data revealed a variant in exon 3 of the EIF2AK2 gene [ (NM_001135651.3): c.92C > G (p.Pro31Arg)]. EIF2AK2 -associated disorders should be incorporated into the differential diagnosis of the syndrome of fever-related neurological decompensation with movement disorders, especially in the presence of abnormal neuroimaging., Literature Review: Disease-causing variants in EIF2AK2 have been reported in 24 individuals from 16 families in the literature to date. Two broad phenotypes have been described, including: (1) childhood-onset generalized dystonia and a normal brain MRI; and (2) early childhood-onset developmental delay combined with movement disorders, spasticity, and seizures in some. Notably, 92% of these patients have neurological deterioration after febrile illness or other physiological stress. Hypomyelination or delayed myelination and thin corpus callosum are seen in most patients and lower medullary lessions are common. Basal ganglia lesions have been reported previously in one case., Conclusions: EIF2AK2 -associated disorders should be incorporated into the differential diagnosis of the syndrome of fever-related neurological decompensation with movement disorders, especially in the presence of abnormal neuroimaging., Competing Interests: The authors report no specific grants for this research financial disclosure. No conflicts of interest are reported by the authors., (© 2021 International Parkinson and Movement Disorder Society.)

Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1-T 2 -weighted hyperintensities in the putamen; Cluster 2-T 2 -weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3-T 2 -weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4-T 1 -weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3 ), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T 1 -weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10 . Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice., Competing Interests: None of the authors have any competing interests to declare. All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the National institute for health research, (NIHR) Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health., (© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.)

Introduction: The Mexican Registry of Parkinson´s disease (ReMePARK) is nested within a multicentric cohort aimed to describe motor, non-motor, and genetic determinants of Parkinson's disease in Mexican patients., Material and Methods: To date, clinical and demographic data from 1,083 subjects has been obtained. Here we present the demographic and clinical data of the current sample along with its comparison with international reports., Results: A total of 607 male and 476 female subjects with Parkinson's disease were included. The mean age of the patients was 64.7 ± 12.9 years. The time from onset of symptoms to diagnosis was 2.4 ± 2.6 years. About 34% of subjects had only elementary education. Of the subjects, 54.4% were under treatment with dopamine agonists., Conclusion: Subjects with Parkinson's disease incorporated into ReMePARK are comparable with other international registries, with the exception of the years of formal education, time to diagnosis, and the use of dopamine agonists. The characterization of the Mexican population with Parkinson's disease will improve diagnosis and therapeutic management as well as define research efforts in this area. Finally, registry future directions are presented.

Introduction: Parkinson's disease is a neurodegenerative disorder characterized by bradykinesia, resting tremor and rigidity. Pathologically, Parkinson's disease is defined by the presence of Lewy bodies, which result from the aggregation of alpha-synuclein. Braak, et al. have proposed that the aggregation of alpha-synuclein pathology in Parkinson's disease begins in the medulla oblongata and progresses predictably, reaching the substantia nigra in the midbrain after affecting the brain stem. Apart from the motor symptoms of the disease, non-motor symptoms may precede the evoked potentials, and these include cognitive dysfunction, psychiatric disorder, sleep disorders and autonomic dysfunction., Objective: To describe and discuss the non-motor symptoms and diagnostic tests and procedures which may provide a pre-motor diagnosis of Parkinson's disease., Conclusions: Non-motor symptoms are now accepted as an integral part of the clinical spectrum of Parkinson's disease and there is evidence to suggest that olfactory dysfunction and sleep disturbances may occur before motor signs. The presence of various non-motor symptoms in conjunction with imaging studies has the potential to detect patients with Parkinson's disease in the pre-motor phase. Nevertheless, a larger number of studies are required, in particular cohort design of subjects in risk.