Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a co...

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Veröffentlicht in:Journal of clinical medicine 2021-05, Vol.10 (10), p.2063
Hauptverfasser: Ticci, Chiara, Orsucci, Daniele, Ardissone, Anna, Bello, Luca, Bertini, Enrico, Bonato, Irene, Bruno, Claudio, Carelli, Valerio, Diodato, Daria, Doccini, Stefano, Donati, Maria Alice, Dosi, Claudia, Filosto, Massimiliano, Fiorillo, Chiara, La Morgia, Chiara, Lamperti, Costanza, Marchet, Silvia, Martinelli, Diego, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana Enrica, Montano, Vincenzo, Moroni, Isabella, Musumeci, Olimpia, Pancheri, Elia, Pegoraro, Elena, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Scalise, Roberta, Sciacco, Monica, Servidei, Serenella, Siciliano, Gabriele, Simoncini, Costanza, Tolomeo, Deborah, Tonin, Paola, Toscano, Antonio, Tubili, Flavia, Mancuso, Michelangelo, Battini, Roberta, Santorelli, Filippo Maria
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container_title Journal of clinical medicine
container_volume 10
creator Ticci, Chiara
Orsucci, Daniele
Ardissone, Anna
Bello, Luca
Bertini, Enrico
Bonato, Irene
Bruno, Claudio
Carelli, Valerio
Diodato, Daria
Doccini, Stefano
Donati, Maria Alice
Dosi, Claudia
Filosto, Massimiliano
Fiorillo, Chiara
La Morgia, Chiara
Lamperti, Costanza
Marchet, Silvia
Martinelli, Diego
Minetti, Carlo
Moggio, Maurizio
Mongini, Tiziana Enrica
Montano, Vincenzo
Moroni, Isabella
Musumeci, Olimpia
Pancheri, Elia
Pegoraro, Elena
Primiano, Guido
Procopio, Elena
Rubegni, Anna
Scalise, Roberta
Sciacco, Monica
Servidei, Serenella
Siciliano, Gabriele
Simoncini, Costanza
Tolomeo, Deborah
Tonin, Paola
Toscano, Antonio
Tubili, Flavia
Mancuso, Michelangelo
Battini, Roberta
Santorelli, Filippo Maria
description Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.
doi_str_mv 10.3390/jcm10102063
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However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.</description><identifier>ISSN: 2077-0383</identifier><identifier>EISSN: 2077-0383</identifier><identifier>DOI: 10.3390/jcm10102063</identifier><identifier>PMID: 34065803</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Age ; Ataxia ; Clinical medicine ; Collaboration ; Cross-sectional studies ; Disease ; Dyskinesia ; Dystonia ; Genetic counseling ; Mitochondrial DNA ; Movement disorders ; Mutation ; Questionnaires ; Software ; Tremor (Muscular contraction)</subject><ispartof>Journal of clinical medicine, 2021-05, Vol.10 (10), p.2063</ispartof><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. 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A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.</description><subject>Age</subject><subject>Ataxia</subject><subject>Clinical medicine</subject><subject>Collaboration</subject><subject>Cross-sectional studies</subject><subject>Disease</subject><subject>Dyskinesia</subject><subject>Dystonia</subject><subject>Genetic counseling</subject><subject>Mitochondrial DNA</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Questionnaires</subject><subject>Software</subject><subject>Tremor (Muscular contraction)</subject><issn>2077-0383</issn><issn>2077-0383</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><recordid>eNptkc1KxTAQhYMoKurKFwi4EaSaNE2buhDk-gv-LNR1SNuJzbVtNEnvxcfxTc1VERVnk4HzcWZyBqFtSvYZK8nBtO4poSQlOVtC6ykpioQwwZZ_9Gtoy_spiSVEltJiFa2xjORcELaO3q7tDHoYAj4x3roGnMdmwJPWdI2DAc9NaLHC1ybYurVD44zqFigoD4f4GE-c9T65gzoYO0TpbnQzeMXa2R6HFvCNWghz0wC-DKozKnrbrlOVdVGZRQDC3LonbPX_Q_wmWtGq87D19W6gh7PT-8lFcnV7fjk5vkpqJvKQaN6QWtMsTYu00pqpqhI8E7kuNIutVprwsokx6arkGVCV6abiJeisLGkuKraBjj59n8eqh6aOmTjVyWdneuVepVVG_lYG08pHO5OCcsooiwa7XwbOvozgg-yNryF-dgA7eplylmclZ5REdOcPOrWji_l9UCkXhcjLSO19UvUiZAf6exlK5OL68sf12TsqTaSl</recordid><startdate>20210512</startdate><enddate>20210512</enddate><creator>Ticci, Chiara</creator><creator>Orsucci, Daniele</creator><creator>Ardissone, Anna</creator><creator>Bello, Luca</creator><creator>Bertini, Enrico</creator><creator>Bonato, Irene</creator><creator>Bruno, Claudio</creator><creator>Carelli, Valerio</creator><creator>Diodato, Daria</creator><creator>Doccini, Stefano</creator><creator>Donati, Maria Alice</creator><creator>Dosi, Claudia</creator><creator>Filosto, Massimiliano</creator><creator>Fiorillo, Chiara</creator><creator>La Morgia, Chiara</creator><creator>Lamperti, Costanza</creator><creator>Marchet, Silvia</creator><creator>Martinelli, Diego</creator><creator>Minetti, Carlo</creator><creator>Moggio, Maurizio</creator><creator>Mongini, Tiziana Enrica</creator><creator>Montano, Vincenzo</creator><creator>Moroni, Isabella</creator><creator>Musumeci, Olimpia</creator><creator>Pancheri, Elia</creator><creator>Pegoraro, Elena</creator><creator>Primiano, Guido</creator><creator>Procopio, Elena</creator><creator>Rubegni, Anna</creator><creator>Scalise, Roberta</creator><creator>Sciacco, Monica</creator><creator>Servidei, Serenella</creator><creator>Siciliano, Gabriele</creator><creator>Simoncini, Costanza</creator><creator>Tolomeo, Deborah</creator><creator>Tonin, Paola</creator><creator>Toscano, Antonio</creator><creator>Tubili, Flavia</creator><creator>Mancuso, Michelangelo</creator><creator>Battini, Roberta</creator><creator>Santorelli, Filippo Maria</creator><general>MDPI AG</general><general>MDPI</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-4847-7812</orcidid><orcidid>https://orcid.org/0000-0003-2738-8562</orcidid><orcidid>https://orcid.org/0000-0002-1359-9062</orcidid><orcidid>https://orcid.org/0000-0002-9208-1527</orcidid><orcidid>https://orcid.org/0000-0002-5534-8253</orcidid><orcidid>https://orcid.org/0000-0002-3075-6525</orcidid><orcidid>https://orcid.org/0000-0002-2852-7512</orcidid><orcidid>https://orcid.org/0000-0001-7616-7008</orcidid></search><sort><creationdate>20210512</creationdate><title>Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases</title><author>Ticci, Chiara ; Orsucci, Daniele ; Ardissone, Anna ; Bello, Luca ; Bertini, Enrico ; Bonato, Irene ; Bruno, Claudio ; Carelli, Valerio ; Diodato, Daria ; Doccini, Stefano ; Donati, Maria Alice ; Dosi, Claudia ; Filosto, Massimiliano ; Fiorillo, Chiara ; La Morgia, Chiara ; Lamperti, Costanza ; Marchet, Silvia ; Martinelli, Diego ; Minetti, Carlo ; Moggio, Maurizio ; Mongini, Tiziana Enrica ; Montano, Vincenzo ; Moroni, Isabella ; Musumeci, Olimpia ; Pancheri, Elia ; Pegoraro, Elena ; Primiano, Guido ; Procopio, Elena ; Rubegni, Anna ; Scalise, Roberta ; Sciacco, Monica ; Servidei, Serenella ; Siciliano, Gabriele ; Simoncini, Costanza ; Tolomeo, Deborah ; Tonin, Paola ; Toscano, Antonio ; Tubili, Flavia ; Mancuso, Michelangelo ; Battini, Roberta ; Santorelli, Filippo Maria</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-f5d0cf142272bff3abb85486f7f3bb8faf059d063fb954e1a4fdb59ef499168b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Age</topic><topic>Ataxia</topic><topic>Clinical medicine</topic><topic>Collaboration</topic><topic>Cross-sectional studies</topic><topic>Disease</topic><topic>Dyskinesia</topic><topic>Dystonia</topic><topic>Genetic counseling</topic><topic>Mitochondrial DNA</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>Questionnaires</topic><topic>Software</topic><topic>Tremor (Muscular contraction)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ticci, Chiara</creatorcontrib><creatorcontrib>Orsucci, Daniele</creatorcontrib><creatorcontrib>Ardissone, Anna</creatorcontrib><creatorcontrib>Bello, Luca</creatorcontrib><creatorcontrib>Bertini, Enrico</creatorcontrib><creatorcontrib>Bonato, Irene</creatorcontrib><creatorcontrib>Bruno, Claudio</creatorcontrib><creatorcontrib>Carelli, Valerio</creatorcontrib><creatorcontrib>Diodato, Daria</creatorcontrib><creatorcontrib>Doccini, Stefano</creatorcontrib><creatorcontrib>Donati, Maria Alice</creatorcontrib><creatorcontrib>Dosi, Claudia</creatorcontrib><creatorcontrib>Filosto, Massimiliano</creatorcontrib><creatorcontrib>Fiorillo, Chiara</creatorcontrib><creatorcontrib>La Morgia, Chiara</creatorcontrib><creatorcontrib>Lamperti, Costanza</creatorcontrib><creatorcontrib>Marchet, Silvia</creatorcontrib><creatorcontrib>Martinelli, Diego</creatorcontrib><creatorcontrib>Minetti, Carlo</creatorcontrib><creatorcontrib>Moggio, Maurizio</creatorcontrib><creatorcontrib>Mongini, Tiziana Enrica</creatorcontrib><creatorcontrib>Montano, Vincenzo</creatorcontrib><creatorcontrib>Moroni, Isabella</creatorcontrib><creatorcontrib>Musumeci, Olimpia</creatorcontrib><creatorcontrib>Pancheri, Elia</creatorcontrib><creatorcontrib>Pegoraro, Elena</creatorcontrib><creatorcontrib>Primiano, Guido</creatorcontrib><creatorcontrib>Procopio, Elena</creatorcontrib><creatorcontrib>Rubegni, Anna</creatorcontrib><creatorcontrib>Scalise, Roberta</creatorcontrib><creatorcontrib>Sciacco, Monica</creatorcontrib><creatorcontrib>Servidei, Serenella</creatorcontrib><creatorcontrib>Siciliano, Gabriele</creatorcontrib><creatorcontrib>Simoncini, Costanza</creatorcontrib><creatorcontrib>Tolomeo, Deborah</creatorcontrib><creatorcontrib>Tonin, Paola</creatorcontrib><creatorcontrib>Toscano, Antonio</creatorcontrib><creatorcontrib>Tubili, Flavia</creatorcontrib><creatorcontrib>Mancuso, Michelangelo</creatorcontrib><creatorcontrib>Battini, Roberta</creatorcontrib><creatorcontrib>Santorelli, Filippo Maria</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Access via ProQuest (Open Access)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of clinical medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ticci, Chiara</au><au>Orsucci, Daniele</au><au>Ardissone, Anna</au><au>Bello, Luca</au><au>Bertini, Enrico</au><au>Bonato, Irene</au><au>Bruno, Claudio</au><au>Carelli, Valerio</au><au>Diodato, Daria</au><au>Doccini, Stefano</au><au>Donati, Maria Alice</au><au>Dosi, Claudia</au><au>Filosto, Massimiliano</au><au>Fiorillo, Chiara</au><au>La Morgia, Chiara</au><au>Lamperti, Costanza</au><au>Marchet, Silvia</au><au>Martinelli, Diego</au><au>Minetti, Carlo</au><au>Moggio, Maurizio</au><au>Mongini, Tiziana Enrica</au><au>Montano, Vincenzo</au><au>Moroni, Isabella</au><au>Musumeci, Olimpia</au><au>Pancheri, Elia</au><au>Pegoraro, Elena</au><au>Primiano, Guido</au><au>Procopio, Elena</au><au>Rubegni, Anna</au><au>Scalise, Roberta</au><au>Sciacco, Monica</au><au>Servidei, Serenella</au><au>Siciliano, Gabriele</au><au>Simoncini, Costanza</au><au>Tolomeo, Deborah</au><au>Tonin, Paola</au><au>Toscano, Antonio</au><au>Tubili, Flavia</au><au>Mancuso, Michelangelo</au><au>Battini, Roberta</au><au>Santorelli, Filippo Maria</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases</atitle><jtitle>Journal of clinical medicine</jtitle><date>2021-05-12</date><risdate>2021</risdate><volume>10</volume><issue>10</issue><spage>2063</spage><pages>2063-</pages><issn>2077-0383</issn><eissn>2077-0383</eissn><abstract>Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.</abstract><cop>Basel</cop><pub>MDPI AG</pub><pmid>34065803</pmid><doi>10.3390/jcm10102063</doi><orcidid>https://orcid.org/0000-0003-4847-7812</orcidid><orcidid>https://orcid.org/0000-0003-2738-8562</orcidid><orcidid>https://orcid.org/0000-0002-1359-9062</orcidid><orcidid>https://orcid.org/0000-0002-9208-1527</orcidid><orcidid>https://orcid.org/0000-0002-5534-8253</orcidid><orcidid>https://orcid.org/0000-0002-3075-6525</orcidid><orcidid>https://orcid.org/0000-0002-2852-7512</orcidid><orcidid>https://orcid.org/0000-0001-7616-7008</orcidid><oa>free_for_read</oa></addata></record>
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subjects Age
Ataxia
Clinical medicine
Collaboration
Cross-sectional studies
Disease
Dyskinesia
Dystonia
Genetic counseling
Mitochondrial DNA
Movement disorders
Mutation
Questionnaires
Software
Tremor (Muscular contraction)
title Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
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