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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

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Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, CM, Brodtkorb, E, Ostergaard, E, de Coo, IFM, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, LA 2020, 'Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases', Journal of Inherited Metabolic Disease, bind 43, nr. 4, s. 726-736. https://doi.org/10.1002/jimd.12211

APA

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M., Brodtkorb, E., Ostergaard, E., de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S., & Bindoff, L. A. (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Journal of Inherited Metabolic Disease, 43(4), 726-736. https://doi.org/10.1002/jimd.12211

CBE

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. 2020. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Journal of Inherited Metabolic Disease. 43(4):726-736. https://doi.org/10.1002/jimd.12211

MLA

Vancouver

Author

Hikmat, Omar ; Naess, Karin ; Engvall, Martin ; Klingenberg, Claus ; Rasmussen, Magnhild ; Tallaksen, Chantal Me ; Brodtkorb, Eylert ; Ostergaard, Elsebet ; de Coo, I F M ; Pias-Peleteiro, Leticia ; Isohanni, Pirjo ; Uusimaa, Johanna ; Darin, Niklas ; Rahman, Shamima ; Bindoff, Laurence A. / Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. I: Journal of Inherited Metabolic Disease. 2020 ; Bind 43, Nr. 4. s. 726-736.

Bibtex

@article{956948b4863f4b0e9c201155e9d6ec74,
title = "Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases",
abstract = "BACKGROUND: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition.METHODS: A multinational, retrospective study using data from 155 patients with POLG variants recruited from seven European countries.RESULTS: We describe the spectrum of clinical features associated with POLG variants in the largest known cohort of patients. While clinical features clearly form a continuum, stratifying patients simply according to age of onset-onset prior to age 12 years; onset between 12 and 40 years and onset after the age of 40 years, permitted us to identify clear phenotypic and prognostic differences. Prior to 12 years of age, liver involvement (87%), seizures (84%), and feeding difficulties (84%) were the major features. For those with onset between 12 and 40 years, ataxia (90%), peripheral neuropathy (84%), and seizures (71%) predominated, while for those with onset over 40 years, ptosis (95%), progressive external ophthalmoplegia (89%), and ataxia (58%) were the major clinical features. The earlier the onset the worse the prognosis. Patients with epilepsy and those with compound heterozygous variants carried significantly worse prognosis.CONCLUSION: Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course.",
author = "Omar Hikmat and Karin Naess and Martin Engvall and Claus Klingenberg and Magnhild Rasmussen and Tallaksen, {Chantal Me} and Eylert Brodtkorb and Elsebet Ostergaard and {de Coo}, {I F M} and Leticia Pias-Peleteiro and Pirjo Isohanni and Johanna Uusimaa and Niklas Darin and Shamima Rahman and Bindoff, {Laurence A}",
note = "{\textcopyright} 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.",
year = "2020",
month = jul,
doi = "10.1002/jimd.12211",
language = "English",
volume = "43",
pages = "726--736",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "4",

}

RIS

TY - JOUR

T1 - Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

AU - Hikmat, Omar

AU - Naess, Karin

AU - Engvall, Martin

AU - Klingenberg, Claus

AU - Rasmussen, Magnhild

AU - Tallaksen, Chantal Me

AU - Brodtkorb, Eylert

AU - Ostergaard, Elsebet

AU - de Coo, I F M

AU - Pias-Peleteiro, Leticia

AU - Isohanni, Pirjo

AU - Uusimaa, Johanna

AU - Darin, Niklas

AU - Rahman, Shamima

AU - Bindoff, Laurence A

N1 - © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

PY - 2020/7

Y1 - 2020/7

N2 - BACKGROUND: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition.METHODS: A multinational, retrospective study using data from 155 patients with POLG variants recruited from seven European countries.RESULTS: We describe the spectrum of clinical features associated with POLG variants in the largest known cohort of patients. While clinical features clearly form a continuum, stratifying patients simply according to age of onset-onset prior to age 12 years; onset between 12 and 40 years and onset after the age of 40 years, permitted us to identify clear phenotypic and prognostic differences. Prior to 12 years of age, liver involvement (87%), seizures (84%), and feeding difficulties (84%) were the major features. For those with onset between 12 and 40 years, ataxia (90%), peripheral neuropathy (84%), and seizures (71%) predominated, while for those with onset over 40 years, ptosis (95%), progressive external ophthalmoplegia (89%), and ataxia (58%) were the major clinical features. The earlier the onset the worse the prognosis. Patients with epilepsy and those with compound heterozygous variants carried significantly worse prognosis.CONCLUSION: Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course.

AB - BACKGROUND: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition.METHODS: A multinational, retrospective study using data from 155 patients with POLG variants recruited from seven European countries.RESULTS: We describe the spectrum of clinical features associated with POLG variants in the largest known cohort of patients. While clinical features clearly form a continuum, stratifying patients simply according to age of onset-onset prior to age 12 years; onset between 12 and 40 years and onset after the age of 40 years, permitted us to identify clear phenotypic and prognostic differences. Prior to 12 years of age, liver involvement (87%), seizures (84%), and feeding difficulties (84%) were the major features. For those with onset between 12 and 40 years, ataxia (90%), peripheral neuropathy (84%), and seizures (71%) predominated, while for those with onset over 40 years, ptosis (95%), progressive external ophthalmoplegia (89%), and ataxia (58%) were the major clinical features. The earlier the onset the worse the prognosis. Patients with epilepsy and those with compound heterozygous variants carried significantly worse prognosis.CONCLUSION: Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course.

U2 - 10.1002/jimd.12211

DO - 10.1002/jimd.12211

M3 - Journal article

C2 - 32391929

VL - 43

SP - 726

EP - 736

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 4

ER -

ID: 61710544