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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

    Despite remarkable advances in genetic testing, many adults with syndromic epilepsy remain without a molecular diagnosis. The challenge in providing genetic testing for this patient population lies in the exte...

    Authors: Laura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, Denise Foster, Chandree L Beaulieu, Jacek Majewski, Dennis E Bulman and Kym M Boycott

    Citation: BMC Neurology 2014 14:22

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  2. Content type: Research article

    Cathepsin D C224T polymorphism has been reported to associate with AD susceptibility. But the results were inconsistent. This study aimed to assess the relationship between C224T polymorphism and AD risk.

    Authors: Cuiju Mo, Qiliu Peng, Jingzhe Sui, Jian Wang, Yan Deng, Li Xie, Taijie Li, Yu He, Xue Qin and Shan Li

    Citation: BMC Neurology 2014 14:13

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  3. Content type: Research article

    Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative g...

    Authors: Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama and Hideshi Kawakami

    Citation: BMC Neurology 2014 14:5

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  4. Content type: Research article

    Genetic modifiers are important clues for the identification of therapeutic targets in neurodegenerative diseases. Huntington disease (HD) is one of the most common autosomal dominant inherited neurodegenerati...

    Authors: Patrick Weydt, Selma M Soyal, G Bernhard Landwehrmeyer and Wolfgang Patsch

    Citation: BMC Neurology 2014 14:1

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  5. Content type: Research article

    Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/...

    Authors: Xiaoling Yang, Yuehua Zhang, Xiaojing Xu, Shuang Wang, Zhixian Yang, Ye Wu, Xiaoyan Liu and Xiru Wu

    Citation: BMC Neurology 2013 13:209

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  6. Content type: Research article

    Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients w...

    Authors: Dulika S Sumathipala, Rohan W Jayasekara and Vajira HW Dissanayake

    Citation: BMC Neurology 2013 13:191

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  7. Content type: Research article

    There is an increasing awareness of the role of the cerebellum not only in motor, but also in cognitive and emotional functions. Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant hereditary ataxi...

    Authors: Iselin Marie Wedding, Jeanette Koht, Espen Dietrichs, Nils Inge Landrø and Chantal ME Tallaksen

    Citation: BMC Neurology 2013 13:186

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  8. Content type: Case report

    Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders...

    Authors: Min Zhu, Xiaobin Li, Meihong Zhou, Hui Wan, Yuchen Wu and Daojun Hong

    Citation: BMC Neurology 2013 13:169

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  9. Content type: Research article

    Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders causing learning disabilities by mutations in the neurofibromin gene, an important inhibitor of the RAS pathway. In a mouse model of N...

    Authors: Florian Mainberger, Nikolai H Jung, Martin Zenker, Ute Wahlländer, Leonie Freudenberg, Susanne Langer, Steffen Berweck, Tobias Winkler, Andreas Straube, Florian Heinen, Sofia Granström, Victor-Felix Mautner, Karen Lidzba and Volker Mall

    Citation: BMC Neurology 2013 13:131

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  10. Content type: Research article

    Parkinson’s disease (PD), the second most common neurodegenerative disease, is characterized by loss of dopaminergic neurons in the substantia nigra. The clinical manifestations of PD encompass a variety of mo...

    Authors: Kai Gao, Xiong Deng, Wen Zheng, Zhi Song, Anding Zhu, Xiaofei Xiu and Hao Deng

    Citation: BMC Neurology 2013 13:125

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  11. Content type: Case report

    Isodicentric 15 syndrome (IDIC-15) is due to partial duplications of chromosome 15 that may includes the q11–13 region that includes genes encoding the α5 (GABRA5) and β3 - γ3 (GABRB3) receptor subunits. The d...

    Authors: Alessandro Di Rocco, Andrea Loggini, Maja Di Rocco, Pietro Di Rocco, Roger P Rossi, Giorgio Gimelli and Carl Bazil

    Citation: BMC Neurology 2013 13:43

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  12. Content type: Research article

    Reduction of retinal nerve fibre layer (RNFL) thickness was shown as part of the neurodegenerative process in a range of different neurodegenerative pathologies including Alzheimer′s disease (AD), idiopathic P...

    Authors: Sarah Wiethoff, Ahmad Zhour, Ludger Schöls and Manuel Dominik Fischer

    Citation: BMC Neurology 2012 12:143

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  13. Content type: Case report

    Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ra...

    Authors: Aia Elise Jønch, Else Rubæk Danielsen, Carsten Thomsen, Per Meden, Kirsten Svenstrup and Jørgen Erik Nielsen

    Citation: BMC Neurology 2012 12:108

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  14. Content type: Research article

    Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia l...

    Authors: Peter Hedera, Jianfeng Xiao, Andreas Puschmann, Dragana Momčilović, Steve W Wu and Mark S LeDoux

    Citation: BMC Neurology 2012 12:93

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  15. Content type: Case report

    The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular ...

    Authors: Troels Tolstrup Nielsen, Skirmante Mardosiene, Annemette Løkkegaard, Jette Stokholm, Susanne Ehrenfels, Sara Bech, Lars Friberg, Jens Kellberg Nielsen and Jørgen E Nielsen

    Citation: BMC Neurology 2012 12:73

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  16. Content type: Research article

    Huntington’s disease (HD) is a fatal progressive neurodegenerative disorder caused by the expansion of the polyglutamine repeat region in the huntingtin gene. Although the disease is triggered by the mutation of ...

    Authors: Ravi Kiran Reddy Kalathur, Miguel A Hernández-Prieto and Matthias E Futschik

    Citation: BMC Neurology 2012 12:47

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  17. Content type: Research article

    Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.

    Authors: Sven H Stüwe, Oliver Goetze, Larissa Arning, Matthias Banasch, Wolfgang E Schmidt, Ludger Schöls and Carsten Saft

    Citation: BMC Neurology 2011 11:145

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  18. Content type: Research article

    Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function m...

    Authors: Franziska Hopfner, Barbara Schormair, Franziska Knauf, Achim Berthele, Thomas R Tölle, Ralf Baron, Christoph Maier, Rolf-Detlef Treede, Andreas Binder, Claudia Sommer, Christian Maihöfner, Wolfram Kunz, Friedrich Zimprich, Uwe Heemann, Arne Pfeufer, Michael Näbauer…

    Citation: BMC Neurology 2011 11:134

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