Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
Identifieur interne : 002776 ( PascalFrancis/Corpus ); précédent : 002775; suivant : 002777Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
Auteurs : Francesco Brancati ; Giovanni Defazio ; Viviana Caputo ; Enza Maria Valente ; Antonio Pizzuti ; Paolo Livrea ; Alfredo Berardelli ; Bruno DallapiccolaSource :
- Movement disorders [ 0885-3185 ] ; 2002.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 02-0313044 INIST |
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ET : | Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia |
AU : | BRANCATI (Francesco); DEFAZIO (Giovanni); CAPUTO (Viviana); VALENTE (Enza Maria); PIZZUTI (Antonio); LIVREA (Paolo); BERARDELLI (Alfredo); DALLAPICCOLA (Bruno) |
AF : | Istituto C.S.S. Mendel/Rome/Italie (1 aut., 3 aut., 4 aut., 5 aut., 8 aut.); Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza/Rome/Italie (1 aut., 3 aut., 5 aut., 8 aut.); Dipartimento di Scienze Neurologiche e Psichiatriche, Policlinico, Università di Bari/Bari/Italie (2 aut., 6 aut.); Department of Clinical Neurology, Institute of Neurology/London/Royaume-Uni (4 aut.); Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza/Rome/Italie (7 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 2; Pp. 392-397; Bibl. 20 ref. |
LA : | Anglais |
EA : | We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. |
CC : | 002B17A01 |
FD : | Dystonie; Torsion; Primaire; Liaison génétique; Hétérogénéité; Etude familiale; Physiopathologie; Adulte; Italie; Age apparition |
FG : | Homme; Europe; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome; Génétique |
ED : | Dystonia; Torsion; Primary; Linkage; Heterogeneity; Family study; Pathophysiology; Adult; Italy; Age of onset |
EG : | Human; Europe; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome; Genetics |
SD : | Distonía; Torsión; Primario; Ligamiento genético; Heterogeneidad; Estudio familiar; Fisiopatología; Adulto; Italia; Edad aparición |
LO : | INIST-20953.354000100907450250 |
ID : | 02-0313044 |
Links to Exploration step
Pascal:02-0313044Le document en format XML
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<front><div type="abstract" xml:lang="en">We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.</div>
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<fC03 i1="04" i2="X" l="ENG"><s0>Linkage</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Hétérogénéité</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Heterogeneity</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Heterogeneidad</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>16</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Family study</s0>
<s5>16</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>16</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Physiopathologie</s0>
<s5>17</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Pathophysiology</s0>
<s5>17</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Fisiopatología</s0>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Adulte</s0>
<s5>20</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Adult</s0>
<s5>20</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Adulto</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Italie</s0>
<s2>NG</s2>
<s5>23</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Italy</s0>
<s2>NG</s2>
<s5>23</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Italia</s0>
<s2>NG</s2>
<s5>23</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Age apparition</s0>
<s5>24</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Age of onset</s0>
<s5>24</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Edad aparición</s0>
<s5>24</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Europe</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Europe</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Europa</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>40</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Génétique</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Genetics</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Genética</s0>
<s5>45</s5>
</fC07>
<fN21><s1>175</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0313044 INIST</NO>
<ET>Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia</ET>
<AU>BRANCATI (Francesco); DEFAZIO (Giovanni); CAPUTO (Viviana); VALENTE (Enza Maria); PIZZUTI (Antonio); LIVREA (Paolo); BERARDELLI (Alfredo); DALLAPICCOLA (Bruno)</AU>
<AF>Istituto C.S.S. Mendel/Rome/Italie (1 aut., 3 aut., 4 aut., 5 aut., 8 aut.); Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza/Rome/Italie (1 aut., 3 aut., 5 aut., 8 aut.); Dipartimento di Scienze Neurologiche e Psichiatriche, Policlinico, Università di Bari/Bari/Italie (2 aut., 6 aut.); Department of Clinical Neurology, Institute of Neurology/London/Royaume-Uni (4 aut.); Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza/Rome/Italie (7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 2; Pp. 392-397; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.</EA>
<CC>002B17A01</CC>
<FD>Dystonie; Torsion; Primaire; Liaison génétique; Hétérogénéité; Etude familiale; Physiopathologie; Adulte; Italie; Age apparition</FD>
<FG>Homme; Europe; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome; Génétique</FG>
<ED>Dystonia; Torsion; Primary; Linkage; Heterogeneity; Family study; Pathophysiology; Adult; Italy; Age of onset</ED>
<EG>Human; Europe; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome; Genetics</EG>
<SD>Distonía; Torsión; Primario; Ligamiento genético; Heterogeneidad; Estudio familiar; Fisiopatología; Adulto; Italia; Edad aparición</SD>
<LO>INIST-20953.354000100907450250</LO>
<ID>02-0313044</ID>
</server>
</inist>
</record>
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