Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing and repeat primed PCR, we provide evidence that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. The ATTTC expansions segregate in 158/158 individuals typically affected by FAME from 22 pedigrees including 16 previously reported families recruited worldwide. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and STARD7 gene expression is not affected. These data, in combination with other genes bearing similar mutations that have been implicated in FAME, suggest ATTTC expansions may cause this disorder, irrespective of the genomic locus involved

Erratum to: 36th International Symposium on Intensive Care and Emergency Medicine

[This corrects the article DOI: 10.1186/s13054-016-1208-6.]

Familial cortical tremor with epilepsy and cerebellar pathological findings

The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6. (C) 2003 Movement Disorder Societ

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor.

Familial cortical myoclonic tremor with epilepsy (FCMTE) is characterized by a distal kinetic tremor, infrequent epileptic attacks, and autosomal dominant inheritance. The tremor is thought to originate from the motor cortex. In our patient group, a premovement cortical spike could not be established on electroencephalogram (EEG) back-averaging. Corticomuscular and intermuscular coherence analysis can demonstrate a cortical common drive to muscles. We carried out coherence analysis of electromyography (EMG) of forearm muscles and EEG of contralateral motor cortex in 7 FCMTE patients, 8 essential tremor (ET) patients, and 7 healthy controls. Results showed strong cortico- and intermuscular coherence in the 8- to 30-Hz range in the FCMTE patients, with EEG preceding EMG. Healthy controls and ET patients showed normal weak coherence around 20 Hz. The ET patients showed some additional coherence at tremor frequency (6 Hz), probably the result of sensory information flowing back to the sensorimotor cortex. These findings point to a pathological cortical drive in FCMTE patients leading to tremulous movements. Coherence analysis is an easy and useful method to differentiate FCMTE from ET. Coherence analysis is helpful when investigating a cortical common drive in cortical tremor and other movement disorders

Propriospinal myoclonus: clinical reappraisal and review of literature.

OBJECTIVE: Propriospinal myoclonus (PSM) is a rare disorder with repetitive, usually flexor arrhythmic brief jerks of the trunk, hips, and knees in a fixed pattern. It has a presumed generation in the spinal cord and diagnosis depends on characteristic features at polymyography. Recently, a historical paradigm shift took place as PSM has been reported to be a functional (or psychogenic) movement disorder (FMD) in most patients. This review aims to characterize the clinical features, etiology, electrophysiologic features, and treatment outcomes of PSM. METHODS: Re-evaluation of all published PSM cases and systematic scoring of clinical and electrophysiologic characteristics in all published cases since 1991. RESULTS: Of the 179 identified patients with PSM (55% male), the mean age at onset was 43 years (range 6-88 years). FMD was diagnosed in 104 (58%) cases. In 12 cases (26% of reported secondary cases, 7% of total cases), a structural spinal cord lesion was found. Clonazepam and botulinum toxin may be effective in reducing jerks. CONCLUSIONS: FMD is more frequent than previously assumed. Structural lesions reported to underlie PSM are scarce. Based on our clinical experience and the reviewed literature, we recommend polymyography to assess recruitment variability combined with a Bereitschaftspotential recording in all cases