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BMC Neurology

Neurogenetics

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: Research article

    The genetic architecture of Parkinson’s Disease (PD) is complex and not completely understood. Multiple genetic studies to date have identified multiple causal genes and risk loci. Nevertheless, most of the ex...

    Authors: Laura Ibanez, Umber Dube, Benjamin Saef, John Budde, Kathleen Black, Alexandra Medvedeva, Jorge L. Del-Aguila, Albert A. Davis, Joel S. Perlmutter, Oscar Harari, Bruno A. Benitez and Carlos Cruchaga

    Citation: BMC Neurology 2017 17:198

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  2. Content type: Research article

    Alexander disease (AxD) is an astrogliopathy that predominantly affects the white matter of the central nervous system (CNS), and is caused by a mutation in the gene encoding the glial fibrillary acidic protei...

    Authors: So-Hyun Lee, Tai-Seung Nam, Kun-Hee Kim, Jin Hee Kim, Woong Yoon, Suk-Hee Heo, Min Jung Kim, Boo Ahn Shin, Ming-Der Perng, Hyon E. Choy, Jihoon Jo, Myeong-Kyu Kim and Seok-Yong Choi

    Citation: BMC Neurology 2017 17:175

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  3. Content type: Case report

    Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson’s Disease (EOPD). PINK1 mutations are the second commonest caus...

    Authors: Brendan P. Norman, Steven J. Lubbe, Manuela Tan, Naomi Warren and Huw R. Morris

    Citation: BMC Neurology 2017 17:153

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  4. Content type: Case report

    Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presentin...

    Authors: Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu and Wei Qiu

    Citation: BMC Neurology 2017 17:104

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  5. Content type: Research article

    As the popularity of transcriptomic analysis has grown, the reported lack of concordance between different studies of the same condition has become a growing concern, raising questions as to the representative...

    Authors: Erin Oerton and Andreas Bender

    Citation: BMC Neurology 2017 17:58

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  6. Content type: Case report

    Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.

    Authors: Shin Iida, Masataka Nakamura, Shinya Asayama, Takenobu Kunieda, Satoshi Kaneko, Hitoshi Osaka and Hirofumi Kusaka

    Citation: BMC Neurology 2017 17:47

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  7. Content type: Research article

    Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous sy...

    Authors: Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, Wen-Chung Yu, Tzu-Hung Chu, Chia-Feng Yang, Svetlana Bizjajeva, Chui-Mei Tiu and Dau-Ming Niu

    Citation: BMC Neurology 2017 17:25

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  8. Content type: Research article

    The effect of genetic variants on aspirin resistance (AR) remains controversial. We sought to assess the association of genetic variants with AR and early clinical outcomes in patients with acute ischemic stro...

    Authors: Xingyang Yi, Chun Wang, Qiang Zhou and Jing Lin

    Citation: BMC Neurology 2017 17:4

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  9. Content type: Case report

    Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteob...

    Authors: Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin and Chin-Hsien Lin

    Citation: BMC Neurology 2017 17:2

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  10. Content type: Research article

    Alzheimer’s disease (AD) pathology appears several years before clinical symptoms, so identifying ways to detect individuals in the preclinical stage is imperative. The cerebrospinal fluid (CSF) Tau/Aβ42 ratio is...

    Authors: Yuetiva Deming, Kathleen Black, David Carrell, Yefei Cai, Jorge L. Del-Aguila, Maria Victoria Fernandez, John Budde, ShengMei Ma, Benjamin Saef, Bill Howells, Sarah Bertelsen, Kuan-lin Huang, Courtney L. Sutphen, Rawan Tarawneh, Anne M. Fagan, David M. Holtzman…

    Citation: BMC Neurology 2016 16:217

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  11. Content type: Case report

    Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. To the best of our knowledge,...

    Authors: Keiko Yamada, Junhui Yuan, Tomoo Mano, Hiroshi Takashima and Masahiko Shibata

    Citation: BMC Neurology 2016 16:201

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  12. Content type: Research article

    Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities...

    Authors: Cong Lu, Yi-Cen Zheng, Yi Dong and Hong-Fu Li

    Citation: BMC Neurology 2016 16:179

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  13. Content type: Case report

    Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating fact...

    Authors: Yaqing Shu, Ling Long, Siyuan Liao, Jiezheng Yang, Jianfang Li, Wei Qiu, Yu Yang, Jian Bao, Aiming Wu, Xueqiang Hu and Zhengqi Lu

    Citation: BMC Neurology 2016 16:171

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  14. Content type: Research article

    Non-high density lipoprotein cholesterol (HDL-C) could be a good predictor of vascular disease outcomes. To evaluate the association between serum non-HDL-C and cognitive impairment in patients with acute isch...

    Authors: Da Lu, Pan Li, Yuying Zhou, Xiaolin Xu, Huihong Zhang, Liping Liu and Zhiyan Tian

    Citation: BMC Neurology 2016 16:154

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  15. Content type: Case report

    Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and gly...

    Authors: Marivi Cervera-Gaviria, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Paola Moyers-Pérez, Blanca Gabriela Lizet Legorreta-Ramírez, Nancy Barrera-Carmona and Jaime Cervera-Gaviria

    Citation: BMC Neurology 2016 16:147

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  16. Content type: Case report

    Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does not en...

    Authors: Jonathan D. J. Labonne, Tyler D. Graves, Yiping Shen, Julie R. Jones, Il-Keun Kong, Lawrence C. Layman and Hyung-Goo Kim

    Citation: BMC Neurology 2016 16:132

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  17. Content type: Case report

    Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractabl...

    Authors: Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, Ranad Shaheen and Fowzan S. Alkuraya

    Citation: BMC Neurology 2016 16:105

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  18. Content type: Case report

    Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of th...

    Authors: Linwei Zhang, Karen N. McFarland, Jinsong Jiao and Yujuan Jiao

    Citation: BMC Neurology 2016 16:87

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