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Section edited by Dai Zhang

This section focuses on the genetic aspects in neurology. Topics include, but are not limited to, inherited neuromuscular and neurodegenerative diseases, clinical genetics, molecular mechanisms, genetic testing of neurological disorders, mutation screenings, genetics of complex diseases and pharmacogenetics.

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  1. Content type: Case report

    Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN...

    Authors: Conceição Bettencourt, Cristina Santos, Paula Coutinho, Patrizia Rizzu, João Vasconcelos, Teresa Kay, Teresa Cymbron, Mafalda Raposo, Peter Heutink and Manuela Lima

    Citation: BMC Neurology 2011 11:131

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  2. Content type: Research article

    Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD ...

    Authors: Rizwana Kousar, Muhammad Jawad Hassan, Bushra Khan, Sulman Basit, Saqib Mahmood, Asif Mir, Wasim Ahmad and Muhammad Ansar

    Citation: BMC Neurology 2011 11:119

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  3. Content type: Research article

    Parkinson's disease (PD) is characterized by alterations in dopaminergic neurotransmission. Genetic polymorphisms involved in dopaminergic neurotransmission may influence susceptibility to PD.

    Authors: Chikako Kiyohara, Yoshihiro Miyake, Midori Koyanagi, Takahiro Fujimoto, Senji Shirasawa, Keiko Tanaka, Wakaba Fukushima, Satoshi Sasaki, Yoshio Tsuboi, Tatsuo Yamada, Tomoko Oeda, Hiroyuki Shimada, Nobutoshi Kawamura, Nobutaka Sakae, Hidenao Fukuyama, Yoshio Hirota…

    Citation: BMC Neurology 2011 11:89

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  4. Content type: Case report

    Pregnancy in patients with Parkinson disease is a rare occurrence. To the best of our knowledge, the effect of pregnancy as well as treatment in genetically confirmed autosomal recessive juvenile parkinsonism ...

    Authors: Takehiro Serikawa, Takayoshi Shimohata, Mami Akashi, Akio Yokoseki, Miwa Tsuchiya, Arika Hasegawa, Kazufumi Haino, Ryoko Koike, Koichi Takakuwa, Keiko Tanaka, Kenichi Tanaka and Masatoyo Nishizawa

    Citation: BMC Neurology 2011 11:72

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  5. Content type: Research article

    Migraine is a common disorder that often coexists with depression. While a functional polymorphism in methyleneterahydrofolate reductase gene (MTHFR C677T) has been implicated in depression; the evidence to su...

    Authors: Zainab Samaan, Daria Gaysina, Sarah Cohen-Woods, Nick Craddock, Lisa Jones, Ania Korszun, Mike Owen, Andrew Mente, Peter McGuffin and Anne Farmer

    Citation: BMC Neurology 2011 11:66

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  6. Content type: Research article

    Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contras...

    Authors: Guillaume Rousseau, Tetsuro Noguchi, Violaine Bourdon, Hagay Sobol and Sylviane Olschwang

    Citation: BMC Neurology 2011 11:9

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  7. Content type: Research article

    DNA polymerase γ (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depl...

    Authors: André Schaller, Dagmar Hahn, Christopher B Jackson, Ilse Kern, Christophe Chardot, Dominique C Belli, Sabina Gallati and Jean-Marc Nuoffer

    Citation: BMC Neurology 2011 11:4

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