Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
نویسندگان
چکیده
منابع مشابه
Neurotransmitter abnormalities in Borna disease.
Borna disease (BD) agent is an infectious pathogen that causes progressive central nervous system (CNS) dysfunction in a wide range of vertebrate hosts. The course of BD in adult rats is biphasic. The acute phase is characterized by aggressive behavior and inflammatory cell infiltrates in brain. With chronic infection animals become listless and inflammation resolves. BD antigens are similarly ...
متن کاملMitochondrial DNA abnormalities and autistic spectrum disorders.
OBJECTIVES To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS Three patients manifested isola...
متن کاملImmunological Abnormalities in Autism Spectrum Disorders
Secondary to clinical features indicating chronic inflammation and immune dysregulation, the immune system has long been suspected to have a role in autism spectrum disorders (ASD). Studies of postmortem autistic brains indicate the presence of immune mediated chronic inflammation in some but not all autistic brains. However, studies of immune abnormalities in ASD children yielded no conclusive...
متن کاملADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
INTRODUCTION ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS We performed a screening of the entire ADCY5 c...
متن کاملPrevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
BACKGROUND Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. METHODS This retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fluid (CSF) homovanillic and 5-hydroxyindol ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2018
ISSN: 0141-8955
DOI: 10.1007/s10545-018-0227-7