Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study

Farhad Salehzadeh, 1 Ahad Azami, 2 Maryam Motezarre, 1 Roghayeh Nematdoust Haghi, 1 Farzad Ahmadabadi 1 1Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil Univers...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Salehzadeh F, Azami A, Motezarre M, Nematdoust Haghi R, Ahmadabadi F
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2020
Materias:	familial mediterranean fever mefv gene epilepsy migraine headache breathe holding paresthesia Diseases of the musculoskeletal system RC925-935
Acceso en línea:	https://doaj.org/article/2949e80c445441c5bd9dcaa1d413116a
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:2949e80c445441c5bd9dcaa1d413116a
record_format	dspace
spelling	oai:doaj.org-article:2949e80c445441c5bd9dcaa1d413116a2021-12-02T04:15:08ZNeurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study1179-156Xhttps://doaj.org/article/2949e80c445441c5bd9dcaa1d413116a2020-01-01T00:00:00Zhttps://www.dovepress.com/neurological-manifestations-in-familial-mediterranean-fever-a-genotype-peer-reviewed-article-OARRRhttps://doaj.org/toc/1179-156XFarhad Salehzadeh, 1 Ahad Azami, 2 Maryam Motezarre, 1 Roghayeh Nematdoust Haghi, 1 Farzad Ahmadabadi 1 1Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranCorrespondence: Farzad AhmadabadiPediatric Neurology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranEmail f.ahmadabadi@arums.ac.irBackground and Aims: Familial Mediterranean Fever (FMF) is a periodic auto-inflammatory disease with an autosomal recessive hereditary pattern. The aim of this study is to explain the spectrum of possible neurological manifestations and its genotype-phenotype correlation in patients with familial Mediterranean fever.Methods: In this case series study, data of 311 FMF patients at the FMF Registration Center in Iran (http://www.fmfiran.ir/) was studied. Patient’s information was entered into a researcher designed questionnaire. Data were analyzed by SPSS software.Results: The mean age of the 181 male and 130 female patients was 23.01 years, ranging from 3– 78 years old. Twelve common MEFV gene analyses were performed in 311 patients, with mutated results in 187 (60.1%) patients. The most common neurological manifestations were headache in 47.26%; 64.1% of those were persistent and 35.9% had a recurrent nature. Other neurological manifestations were vertigo (83 patients, 26.7%), paresthesia (72 patients, 23.2%), tremor (53 patients, 17%), disorientation (40 patients, 12.9%), breath-holding (23 patients, 7.4%), migraine (19 patients, 6.1%), syncope (8 patients, 2.6%), epilepsy (7 patients, 2.3%), febrile seizure (4 patients, 1%), and ataxia (5 patients, 1.6%). There were no cases of stroke or metabolic disorders among these patients.Conclusion: The prevalence of epilepsy among FMF patients was significantly higher than the general population. FMF patients with negative results for MEFV gene mutations had significant frequency of headache, paresthesia, breath-holding, and ataxia.Keywords: familial mediterranean fever, MEFV gene, epilepsy, migraine, headache, breathe holding, paresthesiaSalehzadeh FAzami AMotezarre MNematdoust Haghi RAhmadabadi FDove Medical Pressarticlefamilial mediterranean fevermefv geneepilepsymigraineheadachebreathe holdingparesthesiaDiseases of the musculoskeletal systemRC925-935ENOpen Access Rheumatology: Research and Reviews, Vol Volume 12, Pp 15-19 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	familial mediterranean fever mefv gene epilepsy migraine headache breathe holding paresthesia Diseases of the musculoskeletal system RC925-935
spellingShingle	familial mediterranean fever mefv gene epilepsy migraine headache breathe holding paresthesia Diseases of the musculoskeletal system RC925-935 Salehzadeh F Azami A Motezarre M Nematdoust Haghi R Ahmadabadi F Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
description	Farhad Salehzadeh, 1 Ahad Azami, 2 Maryam Motezarre, 1 Roghayeh Nematdoust Haghi, 1 Farzad Ahmadabadi 1 1Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranCorrespondence: Farzad AhmadabadiPediatric Neurology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranEmail f.ahmadabadi@arums.ac.irBackground and Aims: Familial Mediterranean Fever (FMF) is a periodic auto-inflammatory disease with an autosomal recessive hereditary pattern. The aim of this study is to explain the spectrum of possible neurological manifestations and its genotype-phenotype correlation in patients with familial Mediterranean fever.Methods: In this case series study, data of 311 FMF patients at the FMF Registration Center in Iran (http://www.fmfiran.ir/) was studied. Patient’s information was entered into a researcher designed questionnaire. Data were analyzed by SPSS software.Results: The mean age of the 181 male and 130 female patients was 23.01 years, ranging from 3– 78 years old. Twelve common MEFV gene analyses were performed in 311 patients, with mutated results in 187 (60.1%) patients. The most common neurological manifestations were headache in 47.26%; 64.1% of those were persistent and 35.9% had a recurrent nature. Other neurological manifestations were vertigo (83 patients, 26.7%), paresthesia (72 patients, 23.2%), tremor (53 patients, 17%), disorientation (40 patients, 12.9%), breath-holding (23 patients, 7.4%), migraine (19 patients, 6.1%), syncope (8 patients, 2.6%), epilepsy (7 patients, 2.3%), febrile seizure (4 patients, 1%), and ataxia (5 patients, 1.6%). There were no cases of stroke or metabolic disorders among these patients.Conclusion: The prevalence of epilepsy among FMF patients was significantly higher than the general population. FMF patients with negative results for MEFV gene mutations had significant frequency of headache, paresthesia, breath-holding, and ataxia.Keywords: familial mediterranean fever, MEFV gene, epilepsy, migraine, headache, breathe holding, paresthesia
format	article
author	Salehzadeh F Azami A Motezarre M Nematdoust Haghi R Ahmadabadi F
author_facet	Salehzadeh F Azami A Motezarre M Nematdoust Haghi R Ahmadabadi F
author_sort	Salehzadeh F
title	Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
title_short	Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
title_full	Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
title_fullStr	Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
title_full_unstemmed	Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
title_sort	neurological manifestations in familial mediterranean fever: a genotype-phenotype correlation study
publisher	Dove Medical Press
publishDate	2020
url	https://doaj.org/article/2949e80c445441c5bd9dcaa1d413116a
work_keys_str_mv	AT salehzadehf neurologicalmanifestationsinfamilialmediterraneanfeveragenotypephenotypecorrelationstudy AT azamia neurologicalmanifestationsinfamilialmediterraneanfeveragenotypephenotypecorrelationstudy AT motezarrem neurologicalmanifestationsinfamilialmediterraneanfeveragenotypephenotypecorrelationstudy AT nematdousthaghir neurologicalmanifestationsinfamilialmediterraneanfeveragenotypephenotypecorrelationstudy AT ahmadabadif neurologicalmanifestationsinfamilialmediterraneanfeveragenotypephenotypecorrelationstudy
_version_	1718401356270665728

Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study

Ejemplares similares