Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke

Lam, Ching‐Wan; Law, Chun Yiu; Siu, Wai-Kwan; Fung, C. F.; Yau, Man-Mut; Huen, Kwai-Fun; Lee, Han-Chih Hencher; Mak, Chloe Miu

doi:10.1016/j.cca.2015.06.028

Cited by 14 publications

(7 citation statements)

References 27 publications

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“…A total of 119 patients had con rmed MD either by molecular diagnosis and/or enzymatic analysis, including some cases that have been published in the literature. [13][14][15][16][17][18][19][20][21][22][23] The patients' demographics are summarized in Table 1. Molecular diagnosis was available for 110 patients (92%).…”

Section: Demographics and Epidemiologymentioning

confidence: 99%

Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape

Wong

Belaramani

Chan

et al. 2022

Preprint

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Objective: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods: This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators. Results: A total of 119 MD patients were recruited and analyzed in the study. The point prevalence of MD in HK was 1.02 in 100,000 people (95% confidence interval 0.81 – 1.28 in 100,000). 110 patients had molecularly proven MD and the other nine were diagnosed by OXPHOS enzymology analysis or mitochondrial DNA depletion analysis with unknown molecular basis. Pathogenic variants in the mitochondrial genome (72 patients) were more prevalent than those in the nuclear genome (38 patients) in our cohort. The most commonly involved organ system at disease onset was the neurological system, in which developmental delay, seizures or epilepsy, and stroke-like episodes were the most frequently reported presentations. The mortality rate in our cohort was 37%. Conclusion: This study is a territory-wide overview of the clinical and genetic characteristics of MD patients in a Chinese population, providing the first available prevalence rate of MD in Hong Kong. The findings of this study aim to facilitate future in-depth evaluation of MD and lay the foundation to establish a local MD registry.

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Section: Demographics and Epidemiologymentioning

confidence: 99%

Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape

Wong

Belaramani

Chan

et al. 2022

Preprint

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“…Nonclassified headache has been reported in patients carrying POLG1 mutations. 35 If headache during an SLE is resistant to L-arginine, midazolam may be effective alternatively. 15 Unfortunately, headache is only insufficiently described in most MID cases.…”

Section: Headachementioning

confidence: 99%

“…For example, migraine-like headache may be an isolated manifestation of a MID or may occur together with MELAS, MERRF, chronic progressive external ophthalmoplegia (CPEO), LHON, Leigh syndrome, MIRAS, cyclic vomiting syndrome, mitochondrial depletion syndrome (MDS), or nsMIDs. Nonclassified headache has been reported in patients carrying POLG1 mutations 35 . If headache during an SLE is resistant to L-arginine, midazolam may be effective alternatively 15 .…”

Section: Cns Manifestations Of Midsmentioning

confidence: 99%

Cerebral Manifestations of Mitochondrial Disorders

Finsterer

Carvalho

2017

Can. J. Neurol. Sci.

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This review aims at summarizing and discussing previous and recent findings concerning the cerebral manifestations of mitochondrial disorders (MIDs). MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) either already at onset or later in the course. After the muscle, the brain is the organ second most frequently affected in MIMODS. Cerebral manifestations of MIDs are variable and may present with or without a lesion on imaging or functional studies, but there can be imaging/functional lesions without clinical manifestations. The most well-known cerebral manifestations of MIDs include stroke-like episodes, epilepsy, headache, ataxia, movement disorders, hypopituitarism, muscle weakness, psychiatric abnormalities, nystagmus, white and gray matter lesions, atrophy, basal ganglia calcification, and hypometabolism on 2-deoxy-2-[fluorine-18]fluoro-D-glucose positron-emission tomography. For most MIDs, only symptomatic therapy is currently available. Symptomatic treatment should be supplemented by vitamins, cofactors, and antioxidants. In conclusion, cerebral manifestations of MIDs need to be recognized and appropriately managed because they strongly determine the outcome of MID patients.

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“…Findings on visual inspection of brain magnetic resonance imaging (MRI)e.g. white matter abnormalities, sub-cortical atrophy and/or atrophy of the cerebellum, the brainstem and the corpus callosum, edema and ischemia (Van Goethem et al, 2004;Winterthun et al, 2005;Echaniz-Laguna et al, 2010;Kurt et al, 2010;Saneto et al, 2010;Habek et al, 2012;Synofzik et al, 2012;Cheldi et al, 2013;Kinghorn et al, 2013;Sidiropoulos et al, 2013;Uusimaa et al, 2013;Degos et al, 2014;Bindu et al, 2015;Lam et al, 2015;Tchikviladzé et al, 2015;Henao et al, 2016;Janssen et al, 2016;Martikainen et al, 2016) are not specific to POLG mutations and MRI can also be normal. Only one research study has reported changes in magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in POLG-mutated patients, but it was restricted to stroke-like episodes (Tzoulis et al, 2010) that only a subset of patients present with.…”

Section: Introductionmentioning

confidence: 99%

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations

et al. 2019

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Mutations in the gene encoding polymerase gamma (POLG) are a common cause of mitochondrial diseases in adults. We retrospectively analyzed volumetric and diffusion tensor imaging data from 20 adult POLG-mutated patients compared to healthy controls. We used an original clinical binary load score and electroneuromyography to evaluate disease severity. Patients showed atrophy in the basal ganglia, amygdala, and brainstem (p < 0.05) compared to controls, as well as decreased fractional anisotropy (FA) in the cingulate gyrus, the internal capsule and the corona radiata (p < 0.05). Clinical scores correlated with decreased FA and increased radial diffusivity in several brain regions (p < 0.05).

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Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke

Cited by 14 publications

References 27 publications

Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape

Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape

Cerebral Manifestations of Mitochondrial Disorders

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations

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