Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up

Coller, Riaan van; Rootselaar, Anne-Fleur van; Schutte, Clara-Maria; Meyden, C. H. Van Der

doi:10.1016/j.parkreldis.2017.02.016

Cited by 6 publications

(19 citation statements)

References 17 publications

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“… 16 , 17 , 21 , 37 , 47 , 56 , 57 , 62 Twitching movements can involve facial/axial muscles. 16 , 21 , 57 , 58 Alcohol responsiveness has been reported in two pedigrees. 16 , 58 Myoclonus may remain stable, but long-term follow-up is not always present.…”

Section: Resultsmentioning

confidence: 97%

“… 16 , 21 , 57 , 58 Alcohol responsiveness has been reported in two pedigrees. 16 , 58 Myoclonus may remain stable, but long-term follow-up is not always present. 18 , 40 , 41 Also, myoclonus has been reported to worsen with progressing age.…”

Section: Resultsmentioning

confidence: 97%

“…They can be mild, but can also be more incapacitating. 17 , 27 , 47 , 57 , 58 When present in the lower limbs, these may lead to gait disorders 17 , 36 – 38 , 58 , 61 and even “drop attacks”. 16 , 18 These tremor-like movements during action can easily be mistaken for ET.…”

Section: Resultsmentioning

confidence: 99%

“… 18 , 40 , 41 Also, myoclonus has been reported to worsen with progressing age. 10 , 16 , 17 , 21 , 36 , 57 , 58 , 63 …”

Section: Resultsmentioning

confidence: 99%

“… GTC, CP, F + + + G paroxysmal activity n.a. (3) Cognitive imparity (n:1); Age-related dementia n.d. South Africa, 1 58 16 (12–20) 39 (30–45) GTC n.d. + + G-E, TLE, PSW n.d. ADL and MRS affected by M severity; European descent Gait dysfunction; Facial M (n:2); M worse aging; No (ataxia/cognitive decline) after 30 years n.d. Turkish, 1 18 > 13 (13–16) > 17 (14–17) GTC, F, A, M n.d. + – n.d. …”

Section: Methodsmentioning

confidence: 99%

See 4 more Smart Citations

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Ende

Sharifi

Salm

et al. 2018

Tremor and Other Hyperkinetic Movements

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Section: Resultsmentioning

confidence: 97%

Section: Resultsmentioning

confidence: 97%

Section: Resultsmentioning

confidence: 99%

“… 18 , 40 , 41 Also, myoclonus has been reported to worsen with progressing age. 10 , 16 , 17 , 21 , 36 , 57 , 58 , 63 …”

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 3 more Smart Citations

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Ende

Sharifi

Salm

et al. 2018

Tremor and Other Hyperkinetic Movements

Self Cite

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Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

et al. 2021

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Objective Our goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing symptoms of Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) that we have followed for over 20 years. Methods Patients were subjected to clinical evaluation, routine EEG, and structural magnetic resonance imaging. Whole exome sequencing, repeat‐primed PCR, long‐range PCR, and PacBio sequencing were performed to characterize the disease‐causing mutation in this family. Results All evaluated patients manifested adult‐onset seizures and presented with progressive myoclonic postural tremors starting after the third or fourth decade of life. Seizures typically diminished markedly in frequency with implementation of antiseizure medications but did not completely cease. The electroencephalogram of affected individuals showed generalized or multifocal spikes and slow wave complexes. An expansion of TTTTA motifs with addition of TTTCA motifs in intron 4 of SAMD12 was identified to segregate with the disease phenotype in this family. Furthermore, we found that the mutant allele is unstable and can undergo both contraction and expansion by changes in the number of repeat motifs each time it is passed to the next generation. The size of mutant allele varied from 5 to 5.5 kb with 549‐603 copies of TTTTA and 287‐343 copies of TTTCA repeat motifs in this family. Significance Our study provides a detailed description of clinical progression of FCMTE symptoms and its management with antiseizure medications. Our method of repeat analysis by PacBio sequencing of long‐range PCR products does not require high‐quality DNA and hence can be easily applied to other families to elucidate any correlation between the repeat size and phenotypic variables, such as, age of onset, and severity of symptoms.

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Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families

Zhang

Xiong

et al. 2020

Brain Research

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Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up

Cited by 6 publications

References 17 publications

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families

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