JankovicV1, PascalFrancis, Corpus, bibRecord, 000062

A family with parkinson disease, essential tremor, bell palsy, and parkin mutations

Identifieur interne : 000062 ( PascalFrancis/Corpus ); précédent : 000061; suivant : 000063

A family with parkinson disease, essential tremor, bell palsy, and parkin mutations

Auteurs : HAO DENG ; Wei Le ; Christine Hunter ; Nicte Mejia ; Wen Xie ; Joseph Jankovic

Source :

Archives of neurology : (Chicago) [ 0003-9942 ] ; 2007.

RBID : Pascal:07-0172359

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Tremblement, Paralysie faciale, Parkine, Mutation, Nerf facial.

English descriptors

KwdEn :
- Facial nerve, Facial paralysis, Mutation, Nervous system diseases, Parkin, Parkinson disease, Tremor.

Abstract

Background: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). Objective: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. Design: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. Setting: Mexican family. Patients: Two patients with EOPD were analyzed. Results: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous Ex 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not co-segregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. Conclusions: Compound heterozygous parkin mutations (Ex 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0003-9942`
A02	`01`			`@0 ARNEAS`
A03		`1`		`@0 Arch. neurol. : (Chic.)`
A05				`@2 64`
A06				`@2 3`
A08	`01`	`1`	`ENG`	`@1 A family with parkinson disease, essential tremor, bell palsy, and parkin mutations`
A11	`01`	`1`		`@1 HAO DENG`
A11	`02`	`1`		`@1 LE (Wei-Dong)`
A11	`03`	`1`		`@1 HUNTER (Christine B.)`
A11	`04`	`1`		`@1 MEJIA (Nicte)`
A11	`05`	`1`		`@1 XIE (Wen-Jie)`
A11	`06`	`1`		`@1 JANKOVIC (Joseph)`
A14	`01`			`@1 Department of Neurology, Baylor College of Medicine @2 Houston, Tex @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut.`
A20				`@1 421-424`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 2048B @5 354000159394250160`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 14 ref.`
A47	`01`	`1`		`@0 07-0172359`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Archives of neurology : (Chicago)`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Background: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). Objective: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. Design: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. Setting: Mexican family. Patients: Two patients with EOPD were analyzed. Results: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous Ex 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not co-segregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. Conclusions: Compound heterozygous parkin mutations (Ex 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinson maladie @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinson disease @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson enfermedad @5 02`
C03	`03`	`X`	`FRE`	`@0 Tremblement @5 03`
C03	`03`	`X`	`ENG`	`@0 Tremor @5 03`
C03	`03`	`X`	`SPA`	`@0 Temblor @5 03`
C03	`04`	`X`	`FRE`	`@0 Paralysie faciale @5 04`
C03	`04`	`X`	`ENG`	`@0 Facial paralysis @5 04`
C03	`04`	`X`	`SPA`	`@0 Parálisis facial @5 04`
C03	`05`	`X`	`FRE`	`@0 Parkine @5 09`
C03	`05`	`X`	`ENG`	`@0 Parkin @5 09`
C03	`05`	`X`	`SPA`	`@0 Parkin @5 09`
C03	`06`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`06`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`06`	`X`	`SPA`	`@0 Mutación @5 10`
C03	`07`	`X`	`FRE`	`@0 Nerf facial @5 78`
C03	`07`	`X`	`ENG`	`@0 Facial nerve @5 78`
C03	`07`	`X`	`SPA`	`@0 Nervio facial @5 78`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Mouvement involontaire @5 41`
C07	`05`	`X`	`ENG`	`@0 Involuntary movement @5 41`
C07	`05`	`X`	`SPA`	`@0 Movimiento involuntario @5 41`
C07	`06`	`X`	`FRE`	`@0 Trouble neurologique @5 42`
C07	`06`	`X`	`ENG`	`@0 Neurological disorder @5 42`
C07	`06`	`X`	`SPA`	`@0 Trastorno neurológico @5 42`
C07	`07`	`X`	`FRE`	`@0 Nerf crânien pathologie @5 43`
C07	`07`	`X`	`ENG`	`@0 Cranial nerve disease @5 43`
C07	`07`	`X`	`SPA`	`@0 Nervio craneal patología @5 43`
C07	`08`	`X`	`FRE`	`@0 ORL pathologie @5 44`
C07	`08`	`X`	`ENG`	`@0 ENT disease @5 44`
C07	`08`	`X`	`SPA`	`@0 ORL patología @5 44`
C07	`09`	`X`	`FRE`	`@0 Trouble moteur @5 45`
C07	`09`	`X`	`ENG`	`@0 Motor system disorder @5 45`
C07	`09`	`X`	`SPA`	`@0 Trastorno motor @5 45`
N21				`@1 121`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0172359 INIST
ET :	A family with parkinson disease, essential tremor, bell palsy, and parkin mutations
AU :	HAO DENG; LE (Wei-Dong); HUNTER (Christine B.); MEJIA (Nicte); XIE (Wen-Jie); JANKOVIC (Joseph)
AF :	Department of Neurology, Baylor College of Medicine/Houston, Tex/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut.)
DT :	Publication en série; Niveau analytique
SO :	Archives of neurology : (Chicago); ISSN 0003-9942; Coden ARNEAS; Etats-Unis; Da. 2007; Vol. 64; No. 3; Pp. 421-424; Bibl. 14 ref.
LA :	Anglais
EA :	Background: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). Objective: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. Design: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. Setting: Mexican family. Patients: Two patients with EOPD were analyzed. Results: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous Ex 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not co-segregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. Conclusions: Compound heterozygous parkin mutations (Ex 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.
CC :	002B17; 002B17G; 002B17A03
FD :	Système nerveux pathologie; Parkinson maladie; Tremblement; Paralysie faciale; Parkine; Mutation; Nerf facial
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie; Mouvement involontaire; Trouble neurologique; Nerf crânien pathologie; ORL pathologie; Trouble moteur
ED :	Nervous system diseases; Parkinson disease; Tremor; Facial paralysis; Parkin; Mutation; Facial nerve
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Involuntary movement; Neurological disorder; Cranial nerve disease; ENT disease; Motor system disorder
SD :	Sistema nervioso patología; Parkinson enfermedad; Temblor; Parálisis facial; Parkin; Mutación; Nervio facial
LO :	INIST-2048B.354000159394250160
ID :	07-0172359

Links to Exploration step

Pascal:07-0172359

Le document en format XML

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<author><name sortKey="Hao Deng" sort="Hao Deng" uniqKey="Hao Deng" last="Hao">HAO DENG</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Baylor College of Medicine</s1>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<author><name sortKey="Le, Wei Dong" sort="Le, Wei Dong" uniqKey="Le W" first="Wei" last="Le">Wei Le</name>
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<author><name sortKey="Hunter, Christine B" sort="Hunter, Christine B" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name>
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<author><name sortKey="Xie, Wen Jie" sort="Xie, Wen Jie" uniqKey="Xie W" first="Wen" last="Xie">Wen Xie</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Facial nerve</term>
<term>Facial paralysis</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson disease</term>
<term>Tremor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Tremblement</term>
<term>Paralysie faciale</term>
<term>Parkine</term>
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<front><div type="abstract" xml:lang="en">Background: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). Objective: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. Design: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. Setting: Mexican family. Patients: Two patients with EOPD were analyzed. Results: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous Ex 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not co-segregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. Conclusions: Compound heterozygous parkin mutations (Ex 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.</div>
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<fA11 i1="01" i2="1"><s1>HAO DENG</s1>
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<fA11 i1="02" i2="1"><s1>LE (Wei-Dong)</s1>
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<fA11 i1="06" i2="1"><s1>JANKOVIC (Joseph)</s1>
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<fA14 i1="01"><s1>Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Tex</s2>
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</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Background: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). Objective: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. Design: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. Setting: Mexican family. Patients: Two patients with EOPD were analyzed. Results: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous Ex 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not co-segregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. Conclusions: Compound heterozygous parkin mutations (Ex 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A03</s0>
</fC02>
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<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>02</s5>
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<s5>03</s5>
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<s5>03</s5>
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<s5>03</s5>
</fC03>
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<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Facial paralysis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Parálisis facial</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Parkine</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Parkin</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Parkin</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Mutación</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Nerf facial</s0>
<s5>78</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Facial nerve</s0>
<s5>78</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Nervio facial</s0>
<s5>78</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Nerf crânien pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Cranial nerve disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Nervio craneal patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>ORL pathologie</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>ENT disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>ORL patología</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Trouble moteur</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Motor system disorder</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Trastorno motor</s0>
<s5>45</s5>
</fC07>
<fN21><s1>121</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 07-0172359 INIST</NO>
<ET>A family with parkinson disease, essential tremor, bell palsy, and parkin mutations</ET>
<AU>HAO DENG; LE (Wei-Dong); HUNTER (Christine B.); MEJIA (Nicte); XIE (Wen-Jie); JANKOVIC (Joseph)</AU>
<AF>Department of Neurology, Baylor College of Medicine/Houston, Tex/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Archives of neurology : (Chicago); ISSN 0003-9942; Coden ARNEAS; Etats-Unis; Da. 2007; Vol. 64; No. 3; Pp. 421-424; Bibl. 14 ref.</SO>
<LA>Anglais</LA>
<EA>Background: Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). Objective: To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. Design: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. Setting: Mexican family. Patients: Two patients with EOPD were analyzed. Results: Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous Ex 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous A265G variants in the HS1BP3 gene were found in this pedigree, but they did not co-segregate with ET, Parkinson disease, or Bell palsy, supporting the conclusion that this variant is not associated with ET. Conclusions: Compound heterozygous parkin mutations (Ex 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.</EA>
<CC>002B17; 002B17G; 002B17A03</CC>
<FD>Système nerveux pathologie; Parkinson maladie; Tremblement; Paralysie faciale; Parkine; Mutation; Nerf facial</FD>
<FG>Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie; Mouvement involontaire; Trouble neurologique; Nerf crânien pathologie; ORL pathologie; Trouble moteur</FG>
<ED>Nervous system diseases; Parkinson disease; Tremor; Facial paralysis; Parkin; Mutation; Facial nerve</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Involuntary movement; Neurological disorder; Cranial nerve disease; ENT disease; Motor system disorder</EG>
<SD>Sistema nervioso patología; Parkinson enfermedad; Temblor; Parálisis facial; Parkin; Mutación; Nervio facial</SD>
<LO>INIST-2048B.354000159394250160</LO>
<ID>07-0172359</ID>
</server>
</inist>
</record>

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A family with parkinson disease, essential tremor, bell palsy, and parkin mutations

A family with parkinson disease, essential tremor, bell palsy, and parkin mutations

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