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...
Gespeichert in:
Veröffentlicht in: | Journal of clinical medicine 2021-05, Vol.10 (10), p.2063 |
---|---|
Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | |
---|---|
container_issue | 10 |
container_start_page | 2063 |
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 |
format | Article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8151313</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2532587869</sourcerecordid><originalsourceid>FETCH-LOGICAL-c386t-f5d0cf142272bff3abb85486f7f3bb8faf059d063fb954e1a4fdb59ef499168b3</originalsourceid><addsrcrecordid>eNptkc1KxTAQhYMoKurKFwi4EaSaNE2buhDk-gv-LNR1SNuJzbVtNEnvxcfxTc1VERVnk4HzcWZyBqFtSvYZK8nBtO4poSQlOVtC6ykpioQwwZZ_9Gtoy_spiSVEltJiFa2xjORcELaO3q7tDHoYAj4x3roGnMdmwJPWdI2DAc9NaLHC1ybYurVD44zqFigoD4f4GE-c9T65gzoYO0TpbnQzeMXa2R6HFvCNWghz0wC-DKozKnrbrlOVdVGZRQDC3LonbPX_Q_wmWtGq87D19W6gh7PT-8lFcnV7fjk5vkpqJvKQaN6QWtMsTYu00pqpqhI8E7kuNIutVprwsokx6arkGVCV6abiJeisLGkuKraBjj59n8eqh6aOmTjVyWdneuVepVVG_lYG08pHO5OCcsooiwa7XwbOvozgg-yNryF-dgA7eplylmclZ5REdOcPOrWji_l9UCkXhcjLSO19UvUiZAf6exlK5OL68sf12TsqTaSl</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2532587869</pqid></control><display><type>article</type><title>Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases</title><source>PubMed Central Open Access</source><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><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</creator><creatorcontrib>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</creatorcontrib><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.</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. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2021 by the authors. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-f5d0cf142272bff3abb85486f7f3bb8faf059d063fb954e1a4fdb59ef499168b3</citedby><cites>FETCH-LOGICAL-c386t-f5d0cf142272bff3abb85486f7f3bb8faf059d063fb954e1a4fdb59ef499168b3</cites><orcidid>0000-0003-4847-7812 ; 0000-0003-2738-8562 ; 0000-0002-1359-9062 ; 0000-0002-9208-1527 ; 0000-0002-5534-8253 ; 0000-0002-3075-6525 ; 0000-0002-2852-7512 ; 0000-0001-7616-7008</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151313/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151313/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids></links><search><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><title>Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases</title><title>Journal of clinical medicine</title><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.</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 & 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 & Medical Complete (Alumni)</collection><collection>Health & 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> |
fulltext | fulltext |
identifier | ISSN: 2077-0383 |
ispartof | Journal of clinical medicine, 2021-05, Vol.10 (10), p.2063 |
issn | 2077-0383 2077-0383 |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8151313 |
source | PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central |
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 |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T21%3A52%3A10IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Movement%20Disorders%20in%20Children%20with%20a%20Mitochondrial%20Disease:%20A%20Cross-Sectional%20Survey%20from%20the%20Nationwide%20Italian%20Collaborative%20Network%20of%20Mitochondrial%20Diseases&rft.jtitle=Journal%20of%20clinical%20medicine&rft.au=Ticci,%20Chiara&rft.date=2021-05-12&rft.volume=10&rft.issue=10&rft.spage=2063&rft.pages=2063-&rft.issn=2077-0383&rft.eissn=2077-0383&rft_id=info:doi/10.3390/jcm10102063&rft_dat=%3Cproquest_pubme%3E2532587869%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2532587869&rft_id=info:pmid/34065803&rfr_iscdi=true |