- Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1. [Journal Article]
- NDNeurodegener Dis 2018 Feb 22; 18(2-3):57-68
- CONCLUSIONS: The variable clinical findings associated with the S170F mutation highlight the relevance of atypical phenotypes in the context of research and under a clinical perspective. CSF sampling and detection of Aβ species may be essential to indicate AD pathology in unclear cases presenting with cognitive and motor symptoms at a younger age.
- Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. [Journal Article]
- ISIdeggyogy Sz 2018 Jan 30; 71(1-02):43-48
- CONCLUSIONS: As noted in the literature, our data show that PSE has defined age group and clinical presentation, good prognosis but requires correct choice of medication for treatment. It is thought that good description of these epilepsy types will reduce misdiagnosis and mistreatment rates.
- Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders. [Journal Article]
- NNNeurol Neuroimmunol Neuroinflamm 2018; 5(2):e438
- CONCLUSIONS: GlyRα1-modulating antibody improves diagnostic specificity for immunologically treatable SPS spectrum disorders.
- Segmental Spinal Myoclonus Complicating Lumbar Transforaminal Epidural Steroid Injection. [Journal Article]
- RAReg Anesth Pain Med 2018 Feb 16
- CONCLUSIONS: Segmental spinal myoclonus is a rare complication after lumbar transforaminal epidural steroid and local anesthetic injection. Pain physicians should be aware of this potential complication.
- Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. [Letter]
- PRParkinsonism Relat Disord 2018 Feb 09
- Teaching Video NeuroImages: Delayed hemibody myorhythmia and palatal myoclonus after vertebrobasilar stroke. [Journal Article]
- NeurNeurology 2018 Feb 06; 90(6):e542-e543
- Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. [Review]
- MDMov Disord 2018 Feb 13
- Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum ...
Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Initial manifestations of Ataxia-telangiectasia include cerebellar symptoms (67%), dystonia (18%), choreoathetosis (10%), and tremor (4%), with parkinsonism and myoclonus not reported as initial features. The prevalence of movement disorders during the course of the disease includes cerebellar symptoms (96%), dystonia (89%), parkinsonism (41%), choreoathetosis (89%), myoclonus (92%), and tremor (74%). Phenomenology and age of onset is modulated by presence of residual ATM kinase activity, with genotypes heavily truncating the ATM protein associated with the most severe phenotypes. Ataxia-telangiectasia commonly results in a spectrum of movement disorders beyond ataxia and telangiectasias. © 2018 International Parkinson and Movement Disorder Society.
- Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years. [Journal Article]
- JCJ Clin Neurosci 2018 Feb 08
- We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbid...
We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard.
- [Clinical features and gene analysis of TBC1D24 gene mutation related early-onset focal myoclonic epilepsy]. [Journal Article]
- ZYZhonghua Yi Xue Za Zhi 2018 Feb 06; 98(6):445-449
- Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy.Methods:Clinical da...
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy.Methods:Clinical data of 3 patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy of Xuanwu Hospital from November 2016 to June 2017 was collected and analyzed.Candidate gene mutations were screened by second generation sequencing.Results:Among the 3 patients, 1 was male and 2 were females.Seizure onset age was 4 months, 3 years and 5 years after birth respectively. Two patients had family history of epilepsy.They all had prolonged episodes of focal myoclonus. Two patients had mental retardation.Scalp electroencephalograms (EEG) was recorded in all 3 cases and myoclonic seizures were captured.The ictal EEGs were normal in all cases. In one patient, the ictal EEG of generalized seizure showed alpha rhythm originating from left fronto-central region. Brain magnetic resonance imaging (MRI) was normal in 2 patients. Abnormal signal was found bilaterally in cerebellum in 1 patient. The gene screening showed that two patients carried compound heterozygous mutation of TBC1D24 gene and one carried homozygous mutation, all of which were de novo mutations.All the patients were treated with multiple antiepileptic drugs (AEDs) and seizures were uncontrolled in 2 patients. One patient was followed up for 10 months without recurrence.Conclusions:TBC1D24 gene related early-onset focal myoclonic epilepsy is clinically characterized by early onset, prolonged focal myoclonus which relieved with sleep, mental retardation and poor response to AEDs.The interictal and ictal EEG usually show normal. Genetic analysis can assist in diagnosis and genetic counseling.
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- Myoclonus and hypersensitivity of the tail following intrathecal administration of morphine and bupivacaine in a cat. [Letter]
- VAVet Anaesth Analg 2017 Oct 01