Characterization of tremor in phenylketonuric patients
Tremor of unknown origin is detected in 10-30% of early-treated and in more than 30% late-treated phenylketonuric patients. With the aim of characterizing tremor in phenylketonuria, we carried out a systematic study in 54 patients aged 6 to 37 years. Tremor examination was done by applying the WHIGE...
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| Veröffentlicht in: | Journal of neurology 2005-11, Vol.252 (11), p.1328-1334 |
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| container_title | Journal of neurology |
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| creator | PEREZ-DUENAS, Belén VALLS-SOLE, Josep FERNANDEZ-ALVAREZ, Emilio CONILL, Joan VILASECA, Maria Antonia ARTUCH, Rafael CAMPISTOL, Jaume |
| description | Tremor of unknown origin is detected in 10-30% of early-treated and in more than 30% late-treated phenylketonuric patients. With the aim of characterizing tremor in phenylketonuria, we carried out a systematic study in 54 patients aged 6 to 37 years. Tremor examination was done by applying the WHIGET Tremor Rating Scale and by accelerometer recording (BYOPAC System MP100WSW). Age at diet onset, IQ test results, concomitant plasma phenylalanine levels and index of dietary control were also studied. Tremor was not observed at rest in any case, but was apparent in 22 patients (40.7%) when carrying out a kinetic task. In 15 patients tremor was also evident during maintenance of a postural task at a frequency ranging between 7.5 and 12.7 Hz. Frequency of tremor was not significantly modified by loading the arms or by increasing muscle contraction. Patients with tremor had a later age at onset of phenylalanine restricted diet (p < 0.001). Other treatment-related variables did not differ between patients with and without tremor. Our results of the neurophysiological examination suggest that tremor in phenylketonuric patients is dependent on a dysfunction of central nervous system networks and may be an index of cerebral damage. |
| doi_str_mv | 10.1007/s00415-005-0860-6 |
| format | Article |
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With the aim of characterizing tremor in phenylketonuria, we carried out a systematic study in 54 patients aged 6 to 37 years. Tremor examination was done by applying the WHIGET Tremor Rating Scale and by accelerometer recording (BYOPAC System MP100WSW). Age at diet onset, IQ test results, concomitant plasma phenylalanine levels and index of dietary control were also studied. Tremor was not observed at rest in any case, but was apparent in 22 patients (40.7%) when carrying out a kinetic task. In 15 patients tremor was also evident during maintenance of a postural task at a frequency ranging between 7.5 and 12.7 Hz. Frequency of tremor was not significantly modified by loading the arms or by increasing muscle contraction. Patients with tremor had a later age at onset of phenylalanine restricted diet (p < 0.001). Other treatment-related variables did not differ between patients with and without tremor. Our results of the neurophysiological examination suggest that tremor in phenylketonuric patients is dependent on a dysfunction of central nervous system networks and may be an index of cerebral damage.</description><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-005-0860-6</identifier><identifier>PMID: 15995796</identifier><identifier>CODEN: JNRYA9</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Medical sciences ; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Phenylalanine - blood ; Phenylketonurias - complications ; Phenylketonurias - diet therapy ; Phenylketonurias - physiopathology ; Time Factors ; Tremor - etiology</subject><ispartof>Journal of neurology, 2005-11, Vol.252 (11), p.1328-1334</ispartof><rights>2005 INIST-CNRS</rights><rights>Steinkopff-Verlag 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-8ab2a77993ebbd36911bbc10829b940f25414ea0068467f6aeec37698d5df0dc3</citedby><cites>FETCH-LOGICAL-c356t-8ab2a77993ebbd36911bbc10829b940f25414ea0068467f6aeec37698d5df0dc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27902,27903</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17230800$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15995796$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>PEREZ-DUENAS, Belén</creatorcontrib><creatorcontrib>VALLS-SOLE, Josep</creatorcontrib><creatorcontrib>FERNANDEZ-ALVAREZ, Emilio</creatorcontrib><creatorcontrib>CONILL, Joan</creatorcontrib><creatorcontrib>VILASECA, Maria Antonia</creatorcontrib><creatorcontrib>ARTUCH, Rafael</creatorcontrib><creatorcontrib>CAMPISTOL, Jaume</creatorcontrib><title>Characterization of tremor in phenylketonuric patients</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><description>Tremor of unknown origin is detected in 10-30% of early-treated and in more than 30% late-treated phenylketonuric patients. With the aim of characterizing tremor in phenylketonuria, we carried out a systematic study in 54 patients aged 6 to 37 years. Tremor examination was done by applying the WHIGET Tremor Rating Scale and by accelerometer recording (BYOPAC System MP100WSW). Age at diet onset, IQ test results, concomitant plasma phenylalanine levels and index of dietary control were also studied. Tremor was not observed at rest in any case, but was apparent in 22 patients (40.7%) when carrying out a kinetic task. In 15 patients tremor was also evident during maintenance of a postural task at a frequency ranging between 7.5 and 12.7 Hz. Frequency of tremor was not significantly modified by loading the arms or by increasing muscle contraction. Patients with tremor had a later age at onset of phenylalanine restricted diet (p < 0.001). Other treatment-related variables did not differ between patients with and without tremor. Our results of the neurophysiological examination suggest that tremor in phenylketonuric patients is dependent on a dysfunction of central nervous system networks and may be an index of cerebral damage.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Phenylalanine - blood</subject><subject>Phenylketonurias - complications</subject><subject>Phenylketonurias - diet therapy</subject><subject>Phenylketonurias - physiopathology</subject><subject>Time Factors</subject><subject>Tremor - etiology</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkE1LxDAQhoMo7rr6A7xIEfRWnTQfTY6y-AULXvQc0jRlu7bJmrSH9debZQsLHoY5zPO-DA9C1xgeMED5GAEoZjlAGsEh5ydojikpckyZPEVzIBRyRhidoYsYNwAg0uEczTCTkpWSzxFfrnXQZrCh_dVD613mm2wItvcha122XVu3677t4N0YWpNtE2PdEC_RWaO7aK-mvUBfL8-fy7d89fH6vnxa5YYwPuRCV4UuSymJraqacIlxVRkMopCVpNAUjGJqNQAXlJcN19YaUnIpalY3UBuyQPeH3m3wP6ONg-rbaGzXaWf9GBUXgnDGcAJv_4EbPwaXflMFFpilzj2ED5AJPsZgG7UNba_DTmFQe6PqYFQlo2pvVPGUuZmKx6q39TExKUzA3QToaHTXBO1MG49cWRAQAOQPzpJ9OA</recordid><startdate>20051101</startdate><enddate>20051101</enddate><creator>PEREZ-DUENAS, Belén</creator><creator>VALLS-SOLE, Josep</creator><creator>FERNANDEZ-ALVAREZ, Emilio</creator><creator>CONILL, Joan</creator><creator>VILASECA, Maria Antonia</creator><creator>ARTUCH, Rafael</creator><creator>CAMPISTOL, Jaume</creator><general>Springer</general><general>Springer Nature B.V</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20051101</creationdate><title>Characterization of tremor in phenylketonuric patients</title><author>PEREZ-DUENAS, Belén ; VALLS-SOLE, Josep ; FERNANDEZ-ALVAREZ, Emilio ; CONILL, Joan ; VILASECA, Maria Antonia ; ARTUCH, Rafael ; CAMPISTOL, Jaume</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-8ab2a77993ebbd36911bbc10829b940f25414ea0068467f6aeec37698d5df0dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Phenylalanine - blood</topic><topic>Phenylketonurias - complications</topic><topic>Phenylketonurias - diet therapy</topic><topic>Phenylketonurias - physiopathology</topic><topic>Time Factors</topic><topic>Tremor - etiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>PEREZ-DUENAS, Belén</creatorcontrib><creatorcontrib>VALLS-SOLE, Josep</creatorcontrib><creatorcontrib>FERNANDEZ-ALVAREZ, Emilio</creatorcontrib><creatorcontrib>CONILL, Joan</creatorcontrib><creatorcontrib>VILASECA, Maria Antonia</creatorcontrib><creatorcontrib>ARTUCH, Rafael</creatorcontrib><creatorcontrib>CAMPISTOL, Jaume</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</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</collection><collection>ProQuest One Community College</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>Medical Database</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><jtitle>Journal of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PEREZ-DUENAS, Belén</au><au>VALLS-SOLE, Josep</au><au>FERNANDEZ-ALVAREZ, Emilio</au><au>CONILL, Joan</au><au>VILASECA, Maria Antonia</au><au>ARTUCH, Rafael</au><au>CAMPISTOL, Jaume</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of tremor in phenylketonuric patients</atitle><jtitle>Journal of neurology</jtitle><addtitle>J Neurol</addtitle><date>2005-11-01</date><risdate>2005</risdate><volume>252</volume><issue>11</issue><spage>1328</spage><epage>1334</epage><pages>1328-1334</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><coden>JNRYA9</coden><abstract>Tremor of unknown origin is detected in 10-30% of early-treated and in more than 30% late-treated phenylketonuric patients. With the aim of characterizing tremor in phenylketonuria, we carried out a systematic study in 54 patients aged 6 to 37 years. Tremor examination was done by applying the WHIGET Tremor Rating Scale and by accelerometer recording (BYOPAC System MP100WSW). Age at diet onset, IQ test results, concomitant plasma phenylalanine levels and index of dietary control were also studied. Tremor was not observed at rest in any case, but was apparent in 22 patients (40.7%) when carrying out a kinetic task. In 15 patients tremor was also evident during maintenance of a postural task at a frequency ranging between 7.5 and 12.7 Hz. Frequency of tremor was not significantly modified by loading the arms or by increasing muscle contraction. Patients with tremor had a later age at onset of phenylalanine restricted diet (p < 0.001). Other treatment-related variables did not differ between patients with and without tremor. Our results of the neurophysiological examination suggest that tremor in phenylketonuric patients is dependent on a dysfunction of central nervous system networks and may be an index of cerebral damage.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>15995796</pmid><doi>10.1007/s00415-005-0860-6</doi><tpages>7</tpages></addata></record> |
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| ispartof | Journal of neurology, 2005-11, Vol.252 (11), p.1328-1334 |
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| subjects | Adolescent Adult Biological and medical sciences Child Child, Preschool Female Humans Infant Male Medical sciences Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Phenylalanine - blood Phenylketonurias - complications Phenylketonurias - diet therapy Phenylketonurias - physiopathology Time Factors Tremor - etiology |
| title | Characterization of tremor in phenylketonuric patients |
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