MovDisordV3, PascalFrancis, Corpus, bibRecord, 002882

Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families

Identifieur interne : 002882 ( PascalFrancis/Corpus ); précédent : 002881; suivant : 002883

Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families

Auteurs : Anna R. Bentivoglio ; Pietro Cortelli ; Enza M. Valente ; Tamara Ialongo ; Alessandro Ferraris ; Antonio Elia ; Pasquale Montagna ; Alberto Albanese

Source :

Movement disorders [ 0885-3185 ] ; 2001.

RBID : Pascal:02-0177406

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Caractère autosomique, Caractère récessif, Phénotype, Génétique, Etude familiale, Exploration, Homme, Italie, Age apparition, Précoce, Parkine.

English descriptors

KwdEn :
- Age of onset, Autosomal character, Early, Exploration, Family study, Genetics, Human, Italy, Parkinson disease, Phenotype, Recessive character.

Abstract

The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`08`	`1`		`@1 ALBANESE (Alberto)`
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A14	`03`			`@1 Istituto CSS Mendel @2 Roma @3 ITA @Z 3 aut. @Z 5 aut.`
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A14	`05`			`@1 Istituto Nazionale Neurologico Carlo Besta @2 Milano @3 ITA @Z 8 aut.`
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C01	`01`		`ENG`	@0 The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.
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C03	`09`	`X`	`FRE`	`@0 Italie @2 NG @5 23`
C03	`09`	`X`	`ENG`	`@0 Italy @2 NG @5 23`
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C03	`10`	`X`	`FRE`	`@0 Age apparition @5 24`
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C03	`10`	`X`	`SPA`	`@0 Edad aparición @5 24`
C03	`11`	`X`	`FRE`	`@0 Précoce @5 35`
C03	`11`	`X`	`ENG`	`@0 Early @5 35`
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C07	`06`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 41`
N21				`@1 098`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 02-0177406 INIST
ET :	Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families
AU :	BENTIVOGLIO (Anna R.); CORTELLI (Pietro); VALENTE (Enza M.); IALONGO (Tamara); FERRARIS (Alessandro); ELIA (Antonio); MONTAGNA (Pasquale); ALBANESE (Alberto)
AF :	Istituto di Neurologia, Università Cattolica/Roma/Italie (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 8 aut.); Dipartimento di Patologia Neuropsicosensoriale, Università di Modena/Modena/Italie (2 aut.); Istituto CSS Mendel/Roma/Italie (3 aut., 5 aut.); Clinica Neurologica, Università di Bologna/Bologna/Italie (7 aut.); Istituto Nazionale Neurologico Carlo Besta/Milano/Italie (8 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2001; Vol. 16; No. 6; Pp. 999-1006; Bibl. 24 ref.
LA :	Anglais
EA :	The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.
CC :	002B17G
FD :	Parkinson maladie; Caractère autosomique; Caractère récessif; Phénotype; Génétique; Etude familiale; Exploration; Homme; Italie; Age apparition; Précoce; Parkine
FG :	Europe; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative
ED :	Parkinson disease; Autosomal character; Recessive character; Phenotype; Genetics; Family study; Exploration; Human; Italy; Age of onset; Early
EG :	Europe; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease
SD :	Parkinson enfermedad; Carácter autosómico; Carácter recesivo; Fenotipo; Genética; Estudio familiar; Exploración; Hombre; Italia; Edad aparición; Precoz
LO :	INIST-20953.354000094252170010
ID :	02-0177406

Links to Exploration step

Pascal:02-0177406

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
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<term>Caractère autosomique</term>
<term>Caractère récessif</term>
<term>Phénotype</term>
<term>Génétique</term>
<term>Etude familiale</term>
<term>Exploration</term>
<term>Homme</term>
<term>Italie</term>
<term>Age apparition</term>
<term>Précoce</term>
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<front><div type="abstract" xml:lang="en">The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families</s1>
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<fA11 i1="01" i2="1"><s1>BENTIVOGLIO (Anna R.)</s1>
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<fA11 i1="02" i2="1"><s1>CORTELLI (Pietro)</s1>
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<fA11 i1="03" i2="1"><s1>VALENTE (Enza M.)</s1>
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<fA11 i1="04" i2="1"><s1>IALONGO (Tamara)</s1>
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<fA14 i1="01"><s1>Istituto di Neurologia, Università Cattolica</s1>
<s2>Roma</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena</s1>
<s2>Modena</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Istituto CSS Mendel</s1>
<s2>Roma</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Clinica Neurologica, Università di Bologna</s1>
<s2>Bologna</s2>
<s3>ITA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Istituto Nazionale Neurologico Carlo Besta</s1>
<s2>Milano</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.</s0>
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<fC02 i1="01" i2="X"><s0>002B17G</s0>
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<s5>01</s5>
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<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>01</s5>
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<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
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<s5>04</s5>
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<fC03 i1="02" i2="X" l="SPA"><s0>Carácter autosómico</s0>
<s5>04</s5>
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<fC03 i1="03" i2="X" l="FRE"><s0>Caractère récessif</s0>
<s5>05</s5>
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<fC03 i1="03" i2="X" l="ENG"><s0>Recessive character</s0>
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<s5>05</s5>
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<fC03 i1="04" i2="X" l="FRE"><s0>Phénotype</s0>
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<s5>07</s5>
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<fC03 i1="07" i2="X" l="SPA"><s0>Exploración</s0>
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<s5>20</s5>
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<fC03 i1="08" i2="X" l="SPA"><s0>Hombre</s0>
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<s5>23</s5>
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<s5>23</s5>
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<fC03 i1="10" i2="X" l="FRE"><s0>Age apparition</s0>
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<s5>35</s5>
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<s5>35</s5>
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<fC03 i1="12" i2="X" l="FRE"><s0>Parkine</s0>
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<s5>86</s5>
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<fC07 i1="01" i2="X" l="FRE"><s0>Europe</s0>
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<s2>NG</s2>
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<s2>NG</s2>
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<s5>37</s5>
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<s5>38</s5>
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<s5>38</s5>
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<s5>39</s5>
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<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
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<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
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<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
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<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>41</s5>
</fC07>
<fN21><s1>098</s1>
</fN21>
<fN82><s1>PSI</s1>
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<server><NO>PASCAL 02-0177406 INIST</NO>
<ET>Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families</ET>
<AU>BENTIVOGLIO (Anna R.); CORTELLI (Pietro); VALENTE (Enza M.); IALONGO (Tamara); FERRARIS (Alessandro); ELIA (Antonio); MONTAGNA (Pasquale); ALBANESE (Alberto)</AU>
<AF>Istituto di Neurologia, Università Cattolica/Roma/Italie (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 8 aut.); Dipartimento di Patologia Neuropsicosensoriale, Università di Modena/Modena/Italie (2 aut.); Istituto CSS Mendel/Roma/Italie (3 aut., 5 aut.); Clinica Neurologica, Università di Bologna/Bologna/Italie (7 aut.); Istituto Nazionale Neurologico Carlo Besta/Milano/Italie (8 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2001; Vol. 16; No. 6; Pp. 999-1006; Bibl. 24 ref.</SO>
<LA>Anglais</LA>
<EA>The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.</EA>
<CC>002B17G</CC>
<FD>Parkinson maladie; Caractère autosomique; Caractère récessif; Phénotype; Génétique; Etude familiale; Exploration; Homme; Italie; Age apparition; Précoce; Parkine</FD>
<FG>Europe; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative</FG>
<ED>Parkinson disease; Autosomal character; Recessive character; Phenotype; Genetics; Family study; Exploration; Human; Italy; Age of onset; Early</ED>
<EG>Europe; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease</EG>
<SD>Parkinson enfermedad; Carácter autosómico; Carácter recesivo; Fenotipo; Genética; Estudio familiar; Exploración; Hombre; Italia; Edad aparición; Precoz</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families

Phenotypic characterisation of autosomal recessive PARK6-linked Parkinsonism in three unrelated Italian families

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