Explosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome

Allen, Nicholas M.; Winter, Tobias; Shahwan, Amre; King, Mary D.

doi:10.1016/j.seizure.2013.07.005

Cited by 4 publications

(5 citation statements)

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“…Twenty of these patients had a documented non-epileptic movement disorder (Tables 1 and 2 ) and were further studied. The clinical details of eight patients have been published previously (Morten et al 2007 ; McCoy et al 2011 ; Allen et al 2014 ; Rajakulendran et al 2016 ; Hikmat et al 2017 ).…”

Section: Resultsmentioning

confidence: 99%

“…EPC = epilepsia partialis continua, m = months, Pt = patient, URTI = upper respiratory tract infection, y = yearsPtOnsetMode of presentationMovement disorder phenotypeMRI brainNeurotransmitters POLG mutationsD18 mChoreoathetosis EPC 3 months later (Morten et al 2007)Choreoathetosis, dystonia; continuous, generalised. Orolingual dyskinesiasNormalNormalc.1879C>T; p.(Arg627Trp); c.2740A>C; p.(Thr914Pro)D210 mLeft focal status (Hikmat et al 2017)No informationObstructive hydrocephalus (persistent Blake’s pouch cyst)Abnormalc.2420G>A; p.(Arg807His); c.3154G>A; p.(Gly1052Ser)D310 mMyoclonic jerks post viral illness EPC 33 days later (Allen et al 2014)Non-epileptic myoclonus; continuous, present in sleepNormalAbnormalc.1399G>A; p.(Ala467Thr); c.2740A>C; p.(Thr914Pro)D411 mHypotonia, mild motor delay Right focal status at 11 mNo informationLeptomeningeal enhancementAbnormalc.1399G>A; p.(Ala467Thr); c.2542G>A; p.(Gly848Ser)D511 mPost-infectious encephalopathy, seizures, regression (Hikmat et al 2017)Choreoathetosis, nystagmus, myoclonus (epileptic and non-epileptic); intermittent, not present in sleepDentate nuclei abnormalities, subdural effusions, dural enhancementAbnormalc.1399G>A; p.(Ala467Thr); c.2542G>A; p.(Gly848Ser)D613 mHypotonia, mild motor delay Subsequent EPC at 13 mNo informationRestricted diffusion bilateral perirolandic and hippocampal regionsAbnormalc.1399G>A; p.(Ala467Thr); c.2897T>G; p.(Leu966Arg)D713 mStatus epilepticus, encephalopathy, stroke-like episodes (Hikmat et al 2017)Dystonia, myoclonus, chorea, tremor; intermittent, not present in sleepMetabolic infarct of right occipital lobeAbnormalc.1399>A; p.(Ala467Thr); c.2740A>C; p.(Thr914Pro)D813 mMyoclonic status epilepticusNo informationNo informationAbnormalc.1399G>A; p.(Ala467Thr); c.2554C>T; p.(Arg852Cys)D913 mStatus epilepticus after URTIChorea, myoclonus; continuous, sometimes present in sleep, worsened by illness/seizuresGrey matter abnormal signal left parietal lobe and bilateral cerebral hemispheresAbnormalc.2243G>C; p.(Trp748Ser); c.2740A>C; p.(Thr914Pro)D1013 m…”

Section: Resultsmentioning

confidence: 99%

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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Papandreou

Rahman

Fratter

et al. 2018

J of Inher Metab Disea

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Papandreou

Rahman

Fratter

et al. 2018

J of Inher Metab Disea

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show abstract

“…Multifocal abnormality was evident in 23% of EEG studies, and location of changes was not specified in 7% of the cases. The myoclonic jerks did not always correlate with EEG changes, suggesting that these may have subcortical origin …”

Section: Resultsmentioning

confidence: 89%

“…The myoclonic jerks did not always correlate with EEG changes, suggesting that these may have subcortical origin. 17,18…”

Section: Seizure Semiology and Eeg Findingsmentioning

confidence: 99%

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Anagnostou

Taylor

et al. 2016

Epilepsia

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We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)-related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered. Seventy-two articles were included for analysis. We identified 128 pathogenic variants in 372 patients who had POLG-related epilepsy. Among these, 84% of the cases harbored at least one of these pathogenic variants: p.Ala467Thr, p.Trp748Ser, and p.Gly848Ser. A bimodal distribution of disease onset was present in early childhood (<5 years) and adolescence; female patients had a later presentation than male patients (median age 4.00 vs. 1.83 years, p-value = 0.041). Focal-onset seizure including convulsive, myoclonus, and occipital seizures was common at the outset and was refractory to pharmacotherapy. We confirmed that homozygous pathogenic variants located in the linker region of POLG were associated with later age of onset and longer survival compared to compound heterozygous variants. In addition, biochemical and molecular heterogeneities in different tissues were frequently observed. POLG-related epilepsy is clinically heterogeneous, and the prognosis is, in part, influenced by the location of the variants in the gene and the presence of hepatic involvement. Normal muscle and fibroblast studies do no exclude the diagnosis of POLG-related mitochondrial disease and direct sequencing of the POLG gene should be the gold standard when investigating suspected cases.

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“…The initial search from combined databases returned 228 articles (PubMed = 118 and Embase = 110). A total of 48, including 195 cases, met the inclusion criteria and were used for further evaluation [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 ].…”

Section: Resultsmentioning

confidence: 99%

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

et al. 2020

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Background: The clinical spectrum associated with POLG1 gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders. Our aim was to review diagnostic findings, therapeutic approaches and outcomes of reported cases of epilepsy related to POLG1 mutation. Methods: The articles for review were identified through a systematic research on PubMed and EMBASE databases from January 2003 to April 2020, searching for the terms “Epilepsy AND POLG OR polymerase gamma,” OR “POLG1”. Results: Forty-eight articles were selected for review, which included 195 patients. Two main peaks of age at epilepsy onset were found: at ages 1 and 13 years. The most frequent seizure type was myoclonic. The occurrence of Status Epilepticus was reported in 46.4% of cases. Epileptiform and slow abnormalities were most frequently seen over occipital regions. Brain Magnetic Resonance Imaging (MRI) revealed increased T2 signal intensities in thalamic regions. Genetic analysis revealed a prevalence of A467T, W748S and G848S (74.2% of patients) mutations. Survival at 5 years was estimated at very low levels (30.2% of patients). Conclusion: In this review, we included cases with both pediatric and adult epilepsy onset. The analysis of data regarding prognosis showed that survival is related to age at onset of epilepsy.

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Explosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome

Cited by 4 publications

References 4 publications

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

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