scholarly journals Reply: Pentameric repeat expansions: cortical myoclonus or cortical tremor? and Cortical tremor: a tantalizing conundrum between cortex and cerebellum

Brain ◽  
2020 ◽  
Vol 143 (10) ◽  
pp. e88-e88
Author(s):  
Anna Latorre ◽  
Lorenzo Rocchi ◽  
Francesca Magrinelli ◽  
Eoin Mulroy ◽  
Alfredo Berardelli ◽  
...  
Keyword(s):  
Cortical Myoclonus ◽  
Repeat Expansions

scholarly journals Pentameric repeat expansions: cortical myoclonus or cortical tremor?

Brain ◽  
2020 ◽  
Vol 143 (10) ◽  
pp. e86-e86
Author(s):  
Anne-Fleur van Rootselaar ◽  
Arn M J M van den Maagdenberg ◽  
Christel Depienne ◽  
Marina A J Tijssen
Keyword(s):  
Cortical Myoclonus ◽  
Repeat Expansions

scholarly journals Unravelling the enigma of cortical tremor and other forms of cortical myoclonus

Brain ◽  
2020 ◽  
Vol 143 (9) ◽  
pp. 2653-2663 ◽  
Author(s):  
Anna Latorre ◽  
Lorenzo Rocchi ◽  
Francesca Magrinelli ◽  
Eoin Mulroy ◽  
Alfredo Berardelli ◽  
...  
Keyword(s):  
Essential Role ◽  
Autosomal Dominant ◽  
Common Denominator ◽  
Cortical Myoclonus ◽  
Inhibitory Mechanisms ◽  
Wide Range ◽  
Genetic Features ◽  
Repeat Expansions ◽  
Rhythmic Oscillation ◽  
Hallmark Feature

Abstract Cortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE), a syndrome not yet officially recognized and characterized by clinical and genetic heterogeneity. Non-coding repeat expansions in different genes have been recently recognized to play an essential role in its pathogenesis. Cortical tremor is considered a rhythmic variant of cortical myoclonus and is part of the ‘spectrum of cortical myoclonus’, i.e. a wide range of clinical motor phenomena, from reflex myoclonus to myoclonic epilepsy, caused by abnormal sensorimotor cortical discharges. The aim of this update is to provide a detailed analysis of the mechanisms defining cortical tremor, as seen in FCMTE. After reviewing the clinical and genetic features of FCMTE, we discuss the possible mechanisms generating the distinct elements of the cortical myoclonus spectrum, and how cortical tremor fits into it. We propose that the spectrum is due to the evolution from a spatially limited focus of excitability to recruitment of more complex mechanisms capable of sustaining repetitive activity, overcoming inhibitory mechanisms that restrict excitatory bursts, and engaging wide areas of cortex. Finally, we provide evidence for a possible common denominator of the elements of the spectrum, i.e. the cerebellum, and discuss its role in FCMTE, according to recent genetic findings.

scholarly journals Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110361
Author(s):  
Ashley A. Moeller ◽  
Marcia V. Felker ◽  
Jennifer A. Brault ◽  
Laura C. Duncan ◽  
Rizwan Hamid ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Huntington Disease ◽  
Early Onset ◽  
Trinucleotide Repeat ◽  
Cerebellar Atrophy ◽  
Cag Repeats ◽  
Ataxic Gait ◽  
Repeat Expansions ◽  
Delays In Diagnosis ◽  
Juvenile Huntington Disease

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.

scholarly journals REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data

2020 ◽  
Author(s):  
Russell Lewis McLaughlin
Keyword(s):  
Structural Variation ◽  
Sequence Data ◽  
Neurological Diseases ◽  
Repeat Expansion ◽  
Sequencing Data ◽  
Short Read ◽  
Short Read Sequencing ◽  
Repeat Expansions ◽  
Paired End Sequencing

Abstract Motivation Repeat expansions are an important class of genetic variation in neurological diseases. However, the identification of novel repeat expansions using conventional sequencing methods is a challenge due to their typical lengths relative to short sequence reads and difficulty in producing accurate and unique alignments for repetitive sequence. However, this latter property can be harnessed in paired-end sequencing data to infer the possible locations of repeat expansions and other structural variation. Results This article presents REscan, a command-line utility that infers repeat expansion loci from paired-end short read sequencing data by reporting the proportion of reads orientated towards a locus that do not have an adequately mapped mate. A high REscan statistic relative to a population of data suggests a repeat expansion locus for experimental follow-up. This approach is validated using genome sequence data for 259 cases of amyotrophic lateral sclerosis, of which 24 are positive for a large repeat expansion in C9orf72, showing that REscan statistics readily discriminate repeat expansion carriers from non-carriers. Availabilityand implementation C source code at https://github.com/rlmcl/rescan (GNU General Public Licence v3).

The neuropathology associated with repeat expansions in the C9ORF72 gene

2013 ◽  
Vol 127 (3) ◽  
pp. 347-357 ◽  
Author(s):  
Ian R. A. Mackenzie ◽  
Petra Frick ◽  
Manuela Neumann
Keyword(s):  
Repeat Expansions ◽  
C9orf72 Gene

P-EP028. Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex

2021 ◽  
Vol 132 (8) ◽  
pp. e86-e87
Author(s):  
Kazuki Oi ◽  
Shuichiro Neshige ◽  
Takefumi Hitomi ◽  
Katsuya Kobayashi ◽  
Maya Tojima ◽  
...  
Keyword(s):  
Sensorimotor Cortex ◽  
Low Dose ◽  
Cortical Myoclonus

C9ORF72 repeat expansions in Chinese patients with Parkinson’s disease and multiple system atrophy

2016 ◽  
Vol 123 (11) ◽  
pp. 1341-1345 ◽  
Author(s):  
Xueping Chen ◽  
Yongping Chen ◽  
Qianqian Wei ◽  
Ruwei Ou ◽  
Bei Cao ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Multiple System Atrophy ◽  
Chinese Patients ◽  
Repeat Expansions

scholarly journals The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

2014 ◽  
Vol 5 ◽  
Author(s):  
Gary J. Latham ◽  
Justine Coppinger ◽  
Andrew G. Hadd ◽  
Sarah L. Nolin
Keyword(s):  
Fragile X ◽  
Repeat Expansions ◽  
Agg Interruptions

scholarly journals Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci

2016 ◽  
Vol 2 (3) ◽  
pp. e71 ◽  
Author(s):  
Fang He ◽  
Julie M. Jones ◽  
Claudia Figueroa-Romero ◽  
Dapeng Zhang ◽  
Eva L. Feldman ◽  
...  
Keyword(s):  
Hexanucleotide Repeat ◽  
Repeat Expansions
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