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Cerebellum & Ataxias 2014Cortical myoclonus with ataxia has only rarely been reported in association with Coeliac Disease (CD). Such reports also suggested that it is unresponsive to gluten-free...
BACKGROUND
Cortical myoclonus with ataxia has only rarely been reported in association with Coeliac Disease (CD). Such reports also suggested that it is unresponsive to gluten-free diet. We present detailed electro-clinical characteristics of a new syndrome of progressive cortical hyperexcitability with ataxia and refractory CD. At our gluten/neurology clinic we have assessed and regularly follow up over 600 patients with neurological manifestations due to gluten sensitivity. We have identified 9 patients with this syndrome.
RESULTS
All 9 patients (6 male, 3 female) experienced asymmetrical irregular myoclonus involving one or more limbs and sometimes face. This was often stimulus sensitive and became more widespread over time. Three patients had a history of Jacksonian march and five had at least one secondarily generalised seizure. Electrophysiology showed evidence of cortical myoclonus. Three had a phenotype of epilepsia partialis continua at onset. There was clinical, imaging and/or pathological evidence of cerebellar involvement in all cases. All patients adhered to a strict gluten-free diet with elimination of gluten-related antibodies in most. However, there was still evidence of enteropathy in all, suggestive of refractory celiac disease. Two died from enteropathy-associated lymphoma and one from status epilepticus. Five patients were treated with mycophenolate and one in addition with rituximab and IV immunoglobulins. Their ataxia and enteropathy improved but myoclonus remained the most disabling feature of their illness.
CONCLUSIONS
This syndrome may well be the commonest neurological manifestation of refractory CD. The clinical involvement, apart from ataxia, covers the whole clinical spectrum of cortical myoclonus.
PubMed: 26331035
DOI: 10.1186/2053-8871-1-11 -
Anaesthesia Dec 2016
Topics: Female; Humans; Motor Cortex; Myoclonus; Reflex
PubMed: 27870185
DOI: 10.1111/anae.13725 -
Clinical Neurophysiology Practice 2022We investigated how clinical neurophysiological testing can help distinguish tremor and myoclonus and their subtypes.
OBJECTIVE
We investigated how clinical neurophysiological testing can help distinguish tremor and myoclonus and their subtypes.
METHODS
We retrospectively analysed clinical and neurophysiological data from patients who had undergone polymyography (EMG + accelerometry) to diagnose suspected tremor or myoclonus. We show a systematic approach, which includes contraction pattern, rhythm regularity, burst duration and evidence of cortical drive.
RESULTS
We detected 773 patients in our database, of which 556 patients were ultimately diagnosed with tremor (enhanced physiological tremor n = 169, functional tremor n = 140, essential tremor n = 90, parkinsonism associated tremor n = 64, cerebellar tremor n = 19, Holmes tremor n = 12, dystonic tremor n = 8, tremor not further specified n = 9), 140 with myoclonus and 23 with a combination of tremor and myoclonus. Polymyography confirmed the presumptive diagnosis in the majority of the patients and led to a change of diagnosis in 287 patients (37%). Conversions between diagnoses of tremor and myoclonus occurred most frequently between enhanced physiological tremor, essential tremor, functional tremor and cortical myoclonus.
CONCLUSIONS
Neurophysiology is a valuable additional tool in clinical practice to differentiate between tremor and myoclonus, and can guide towards a specific subtype.
SIGNIFICANCE
We show how the stepwise neurophysiological approach used at our medical center aids the diagnosis of tremor versus myoclonus.
PubMed: 35243186
DOI: 10.1016/j.cnp.2021.12.002 -
Epilepsy & Behavior Reports 2020•We present a patient in whom myoclonus appeared after initiation of treatment with amoxicillin-clavulanic acid.•Myoclonus and EEG abnormalities disappeared after...
•We present a patient in whom myoclonus appeared after initiation of treatment with amoxicillin-clavulanic acid.•Myoclonus and EEG abnormalities disappeared after discontinuation of antibiotic treatment.•This possible adverse effect should be considered to avoid performing aggressive therapeutic maneuvers.
PubMed: 32529182
DOI: 10.1016/j.ebr.2020.100367 -
Pediatric Neurology Apr 2021
Topics: COVID-19; Child, Preschool; Encephalitis; Humans; Infant; Ocular Motility Disorders; Opsoclonus-Myoclonus Syndrome; Receptors, N-Methyl-D-Aspartate; SARS-CoV-2
PubMed: 33662888
DOI: 10.1016/j.pediatrneurol.2020.12.009 -
BMC Neurology Oct 2023Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its...
BACKGROUND
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities.
CASE PRESENTATION
We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors.
CONCLUSIONS
The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.
Topics: Humans; Male; Creutzfeldt-Jakob Syndrome; Akinetic Mutism; Churg-Strauss Syndrome; Multimorbidity; Myoclonus; Situs Inversus
PubMed: 37784069
DOI: 10.1186/s12883-023-03401-5 -
European Journal of Paediatric... Jul 2023Early onset ataxia (EOA) concerns a heterogeneous disease group, often presenting with other comorbid phenotypes such as myoclonus and epilepsy. Due to genetic and...
OBJECTIVES
Early onset ataxia (EOA) concerns a heterogeneous disease group, often presenting with other comorbid phenotypes such as myoclonus and epilepsy. Due to genetic and phenotypic heterogeneity, it can be difficult to identify the underlying gene defect from the clinical symptoms. The pathological mechanisms underlying comorbid EOA phenotypes remain largely unknown. The aim of this study is to investigate the key pathological mechanisms in EOA with myoclonus and/or epilepsy.
METHODS
For 154 EOA-genes we investigated (1) the associated phenotype (2) reported anatomical neuroimaging abnormalities, and (3) functionally enriched biological pathways through in silico analysis. We assessed the validity of our in silico results by outcome comparison to a clinical EOA-cohort (80 patients, 31 genes).
RESULTS
EOA associated gene mutations cause a spectrum of disorders, including myoclonic and epileptic phenotypes. Cerebellar imaging abnormalities were observed in 73-86% (cohort and in silico respectively) of EOA-genes independently of phenotypic comorbidity. EOA phenotypes with comorbid myoclonus and myoclonus/epilepsy were specifically associated with abnormalities in the cerebello-thalamo-cortical network. EOA, myoclonus and epilepsy genes shared enriched pathways involved in neurotransmission and neurodevelopment both in the in silico and clinical genes. EOA gene subgroups with myoclonus and epilepsy showed specific enrichment for lysosomal and lipid processes.
CONCLUSIONS
The investigated EOA phenotypes revealed predominantly cerebellar abnormalities, with thalamo-cortical abnormalities in the mixed phenotypes, suggesting anatomical network involvement in EOA pathogenesis. The studied phenotypes exhibit a shared biomolecular pathogenesis, with some specific phenotype-dependent pathways. Mutations in EOA, epilepsy and myoclonus associated genes can all cause heterogeneous ataxia phenotypes, which supports exome sequencing with a movement disorder panel over conventional single gene panel testing in the clinical setting.
Topics: Humans; Myoclonus; Ataxia; Cerebellar Ataxia; Epilepsy; Comorbidity
PubMed: 37301083
DOI: 10.1016/j.ejpn.2023.05.009 -
Tremor and Other Hyperkinetic Movements... 2019Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting...
BACKGROUND
Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common.
CASE REPORT
A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan () gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs.
DISCUSSION
Although it is not typical, leg involvement could be a manifestation of myoclonus-dystonia either at presentation or during disease progression.
Topics: Adult; Dystonic Disorders; Female; Gait; Humans; Mutation; Myoclonus; Phenotype; Sarcoglycans
PubMed: 31413899
DOI: 10.7916/tohm.v0.656 -
Neurology India 2022
Topics: Humans; Myoclonus
PubMed: 36076700
DOI: 10.4103/0028-3886.355183 -
Journal of Neurology Aug 2020Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance...
Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, cerebellum and cerebral subcortical white matter. The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: SLC20A2, PDGFRB, PDGFB and XPR1. A variety of progressive neurological and psychiatric symptoms have been described, including cognitive impairment, movement disorders, bipolar disorder, chronic headaches and migraine, and epilepsy. Here we describe a family with a novel SLC20A2 mutation mainly presenting with neurological symptoms including cortical myoclonus and epilepsy. While epilepsy, although rare, has been reported in patients with IBGC associated with SLC20A2 mutations, cortical myoclonus seems to be a new manifestation.
Topics: Basal Ganglia Diseases; Brain Diseases; Epilepsy; Humans; Mutation; Myoclonus; Pedigree; Sodium-Phosphate Cotransporter Proteins, Type III; Xenotropic and Polytropic Retrovirus Receptor
PubMed: 32274582
DOI: 10.1007/s00415-020-09821-4