Search results for "Myoclonus"
showing 10 items of 22 documents
Clinical spectrum of movement disorders after stroke in childhood and adulthood.
2011
Although rare, many different types of hyperkinetic and hypokinetic movement disorders have been described after both ischemic and hemorrhagic stroke in children and in adults. Current knowledge about these disorders comes from single case reports or small series of cases compiled from retrospective studies. Data from hospital-based studies suggest a prevalence of poststroke movement disorders ranging from 1.1 to 3.9%. However, despite the development of emergency care for stroke, these clinical syndromes remain insufficiently recognized. Poststroke movement disorders take place in the acute phase or following a variable delay after stroke onset, and could be transient or persistent. Dyston…
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
2021
Background and ObjectivesAnti-IgLON5 disease is a recently described neurologic disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are underreported. We describe the frequency and types of movement disorders in a series of consecutive patients with this disease.MethodsIn this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by 3 experts in movement disorders.ResultsSeventy-two patients were included. In 41 (57%), the main reason for initial consult…
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
2022
Background Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. Objectives The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. Methods We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. Results PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cere…
REM sleep behavior disorder and periodic leg movements during sleep in ALS
2017
Objective To assess sleep characteristics and the occurrence of abnormal muscle activity during sleep, such as REM sleep without atonia (RSWA), REM sleep behavior disorder (RBD), and periodic leg movements during sleep (PLMS), in patients with amyotrophic lateral sclerosis (ALS). Methods A total of 41 patients with ALS and 26 healthy subjects were submitted to clinical interview and overnight video-polysomnography. Results A total of 22 patients with ALS (53.6%) reported poor sleep quality. Polysomnographic studies showed that patients with ALS had reduced total sleep time, increased wakefulness after sleep onset, shortened REM and slow-wave sleep, and decreased sleep efficiency, compared t…
Orphan symptoms in advanced cancer patients followed at home
2013
Abstract Orphan symptoms are rarely assessed, particularly at home. The aim of this multicenter prospective study was to assess the prevalence of these symptoms and eventual factors possibly associated in advanced cancer patients at admission of a home care program. A prospective study was performed at three home care programs in Italy. Patients' data were collected, including age, sex, diagnosis, and Karnofsky status. Possible contributing factors were analyzed; preexisting neurological diseases, cerebral metastases, hyperthermia, diabetes, a state of dehydration clinically evident and/or oliguria, possible biochemical parameters when available, data regarding recent chemotherapy, opioids …
Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolys…
2020
Abstract An inherited deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture, in other adult patients peripheral …
Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease
2014
IMPORTANCE: Creutzfeldt-Jakob disease (CJD) and autoimmune encephalitis with antibodies against neuronal surface antigens (NSA-abs) may present with similar clinical features. Establishing the correct diagnosis has practical implications in the management of care for these patients. OBJECTIVE: To determine the frequency of NSA-abs in the cerebrospinal fluid of patients with suspected CJD and in patients with pathologically confirmed (ie, definite) CJD. DESIGN, SETTING, AND PARTICIPANTS: A mixed prospective (suspected) and retrospective (definite) CJD cohort study was conducted in a reference center for detection of NSA-abs. The population included 346 patients with suspected CJD and 49 pati…
Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report
2014
Introduction Opsoclonus-myoclonus syndrome is a very rare neurological disorder associated with some viral infections and exceptionally with the West Nile virus. Case presentation A 57-year-old Caucasian woman presented with fever, dizziness, balance difficulties, vomiting, dancing eye, altered speech, tremor, generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was identified both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. Conclusions Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. There was no evidence for any…
Genetic features of neuroblastic tumors associated with opsoclonus-myoclonus syndrome opens up the possibility for detection in peripheral blood
2016
Opsoclonus–myoclonus syndrome (OMS) is a rare paraneoplastic, postinfectious, or parainfectious or idiopathic acute neurological syndrome in children and adults. OMS is characterized by involuntary...
Acid Ceramidase Deficiency
2015
Abstract A deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture. In the ceramidase gene, which has been mapped …