A family with parkinson disease, essential tremor, bell palsy, and parkin mutations
Identifieur interne : 000062 ( PascalFrancis/Corpus ); précédent : 000061; suivant : 000063A family with parkinson disease, essential tremor, bell palsy, and parkin mutations
Auteurs : HAO DENG ; Wei Le ; Christine Hunter ; Nicte Mejia ; Wen Xie ; Joseph JankovicSource :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
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Format Inist (serveur)
NO : | PASCAL 07-0172359 INIST |
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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 |
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Pascal:07-0172359Le document en format XML
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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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<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>
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<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
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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>
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