Gender variability in presentation with Alpers’ syndrome: a report of eight patients from the UAE

Mohamed, Khalid; Fathallah, Waseem; Ahmed, Elamin

doi:10.1007/s10545-011-9278-8

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…Details on general anesthetic agents were provided in 16 cases; midazolam (n = 11) and pentobarbital (n = 7) were the most commonly used drugs. Possible efficacious treatments for seizure were identified in 18 cases: ketogenic diet/low glycemic diet (n = 3), phenobarbital (n = 3), combined midazolam and thiopentone with other AEDs (n = 2), magnesium infusion (n = 2), combined propofol and thiopentone (n = 1), ketamine infusion (n = 1), folinic acid (n = 1), and carnitine for hepatic encephalopathy (n = 1) (Table ). Palliative hemispherectomy was performed in a single patient .…”

Section: Resultsmentioning

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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Section: Resultsmentioning

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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“…Whether a founder effect is exclusive to the Northern European ethnic population is not known, as most of the early mutational research has centered on the North European population. Polymerase gamma mutations inducing Alpers-Huttenlocher syndrome have been found in many other ethnic groups [31, 74, 75]. As more patients are described with polymerase gamma mutations it is possible that more “hot spot” regions of polymerase will be uncovered.…”

Section: Epidemiology Of Polymerase Gamma Mutations In Alpers-huttenlmentioning

confidence: 99%

Alpers-Huttenlocher Syndrome

Saneto

Cohen

Copeland

et al. 2013

Pediatric Neurology

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Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial DNA replicase, polymerase gamma. Alterations in enzyme activity result in reduced levels and/or deletions within the mitochondrial DNA with phenotypic manifestations occurring when the functional content of mitochondrial DNA reaches a critical nadir. The tempo of disease progression and onset varies among patients, even those with identical genotypes. The classical clinical triad of seizures, liver degeneration, and progressive developmental regression helps define the disorder, but there is a wide range of clinical expression. The majority of patients are healthy before the disease onset with seizures heralding the disorder in most patients. Seizures can rapidly progress to medical intractability with frequent episodes of epilepsia partialis continua or status epilepticus. Liver involvement may precede or occur after onset of seizures. Regardless, eventual liver failure is common. Both the tempo of disease progression and range of organ involvement vary from patient to patient and are only partially explained by the pathogenic effects of a given genetic mutation(s). Diagnosis is made by the constellation of organ involvement, not the sequence of symptoms. This disorder is relentlessly progressive and ultimately fatal.

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Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease

Saneto

Cohen

2012

Mitochondrial Disorders Caused by Nuclear Genes

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Gender variability in presentation with Alpers’ syndrome: a report of eight patients from the UAE

Abstract: Initial manifestations in Alpers' syndrome may be gender specific. In males, the condition should be considered in patients with seizures and encephalopathy, even in the absence of hepatic disease.

Cited by 4 publications

References 6 publications

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

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

Alpers-Huttenlocher Syndrome

Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease

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