Skip to main content



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.

Page 1 of 2

  1. Content type: Research article

    Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese p...

    Authors: Jie Li, Hongfen Wang, Zizi He, Xiangqing Wang, Jing Tang and Dehui Huang

    Citation: BMC Neurology 2019 19:227

    Published on:

  2. Content type: Case report

    Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The presen...

    Authors: Cuibai Wei, Qi Qin, Fei Chen, Aihong Zhou, Fen Wang, Xiumei Zuo, Rong Chen, Jihui Lyu and Jianping Jia

    Citation: BMC Neurology 2019 19:203

    Published on:

  3. Content type: Case report

    Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies reported several novel PSEN1 mutations among Asian. We describe a male with EOAD had a ...

    Authors: Vo Van Giau, Jung-Min Pyun, Jeewon Suh, Eva Bagyinszky, Seong Soo A. An and Sang Yun Kim

    Citation: BMC Neurology 2019 19:188

    Published on:

  4. Content type: Research article

    Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divide...

    Authors: Jiajun Chen, Yajuan Sun, Xiaoyang Liu and Jia Li

    Citation: BMC Neurology 2019 19:157

    Published on:

  5. Content type: Case report

    Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herei...

    Authors: Zhuoxin Guo, Tingting Lu, Lisheng Peng, Huanhuan Cheng, Fuhua Peng, Jin Li, Zhengqi Lu, Shaoqiong Chen and Wei Qiu

    Citation: BMC Neurology 2019 19:156

    Published on:

  6. Content type: Case report

    Multiple Mitochondrial Dysfunctions Syndrome 4 (MMDS4) is manifested as a result of ISCA2 mutations. ISCA2 is a vital component of 4Fe-4S clusters assembly machine. Therefore, in MMDS4 patients, deficient mitocho...

    Authors: Milad Eidi and Masoud Garshasbi

    Citation: BMC Neurology 2019 19:153

    Published on:

  7. Content type: Case report

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transien...

    Authors: Chumpol Anamnart, Dittapong Songsaeng and Sirisak Chanprasert

    Citation: BMC Neurology 2019 19:106

    Published on:

  8. Content type: Research article

    Primary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of h...

    Authors: Sushan Luo, Minjie Xu, Jian Sun, Kai Qiao, Jie Song, Shuang Cai, Wenhua Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, Xiaohua Ni, Tonghai Dou and Chongbo Zhao

    Citation: BMC Neurology 2019 19:92

    Published on:

  9. Content type: Case report

    Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype an...

    Authors: Sofia Thunström and Markus Axelsson

    Citation: BMC Neurology 2019 19:89

    Published on:

  10. Content type: Research article

    Wilson’s disease (WD) is an autosomal recessive disease of impaired copper metabolism. Previous study demonstrated that WD with corpus callosum abnormalities (WD-CCA) was limited to the posterior part (spleniu...

    Authors: Zhi-Hua Zhou, Yun-Fan Wu, Jin Cao, Ji-Yuan Hu, Yong-Zhu Han, Ming-Fan Hong, Gong-Qiang Wang, Shu-Hu Liu and Xue-Min Wang

    Citation: BMC Neurology 2019 19:85

    Published on:

  11. Content type: Research article

    Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically het...

    Authors: Stine Westergaard Mathorne, Kristina Sørensen, Christina Fagerberg, Matthias Bode and Jens Michael Hertz

    Citation: BMC Neurology 2019 19:60

    Published on:

  12. Content type: Case report

    Spinocerebellar ataxia type 31 (SCA 31) is a slowly progressive neurodegenerative disorder characterized by pure cerebellar ataxia. Unlike other CAG repeat diseases, sleep-related problems have not been report...

    Authors: Kazumasa Shindo, Tohko Sato, Hiroaki Murata, Yuta Ichinose, Takanori Hata and Yoshihisa Takiyama

    Citation: BMC Neurology 2019 19:9

    Published on:

  13. Content type: Research article

    Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes...

    Authors: Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah and Frenny Sheth

    Citation: BMC Neurology 2018 18:203

    Published on:

  14. Content type: Case report

    Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutat...

    Authors: Xiaoqian Zhang, Lei Zhang, Yanqing Wu, Gang Li, Shengcai Chen, Yuanpeng Xia and Hongge Li

    Citation: BMC Neurology 2018 18:196

    Published on:

  15. Content type: Research article

    Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive disorder with predominant sensory dysfunction and severe complications such as limb destruction. There are different subtype...

    Authors: Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani and Sareh Asadi

    Citation: BMC Neurology 2018 18:195

    Published on:

  16. Content type: Case report

    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar a...

    Authors: Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed and Giovanni Stevanin

    Citation: BMC Neurology 2018 18:175

    Published on:

  17. Content type: Case report

    DNA methyltransferase 1 (EC, encoded by DNMT1 gene, is one of key enzymes in maintaining DNA methylation patterns of the human genome. It plays a crucial role in embryonic development, imprinting and...

    Authors: Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang and Huifang Xie

    Citation: BMC Neurology 2018 18:174

    Published on:

  18. Content type: Case report

    Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because o...

    Authors: Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata and Yuji Takahashi

    Citation: BMC Neurology 2018 18:117

    Published on:

  19. Content type: Research article

    Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by substantial clinical and genetic heterogeneity. Thus far, only a few TARDBP-ALS families have been reported in China, and...

    Authors: Guo-rong Xu, Wei Hu, Ling-Ling Zhan, Chong Wang, Liu-Qing Xu, Min-Ting Lin, Wan-Jin Chen, Ning Wang and Qi-Jie Zhang

    Citation: BMC Neurology 2018 18:35

    Published on:

  20. Content type: Research article

    CDKN2BAS gene polymorphisms has been shown to correlation with intracranial aneurysm(IA) in the study of foreign people. The study, the author selected the Chinese people as the research object to explore whet...

    Authors: Yunchang Chen, Gancheng Li, Haiyan Fan, Shenquan Guo, Ran Li, Jian Yin, Xin Zhang, Xifeng Li, Xuying He and Chuanzhi Duan

    Citation: BMC Neurology 2017 17:214

    Published on:

  21. 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

    Published on:

  22. 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

    Published on:

  23. 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

    Published on:

  24. 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

    Published on:

  25. 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

    Published on:

    The Correction to this article has been published in BMC Neurology 2019 19:16

  26. 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

    Published on:

  27. 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

    Published on:

  28. 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

    Published on:

  29. 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

    Published on:

  30. 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

    Published on:

  31. 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

    Published on:

  32. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  39. Content type: Case report

    In addition to its role in cell adhesion and gene expression in the canonical Wingless/integrated Wnt signaling pathway, β-catenin also regulates genes that underlie the transmission of nerve impulses. Mutatio...

    Authors: Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Anna Monies-Nowicka, Michal Maciej Nowicki, Barbara Steinborn, Anna Latos-Bieleńska and Dorota Monies

    Citation: BMC Neurology 2016 16:35

    Published on:

  40. Content type: Case report

    X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for t...

    Authors: Adnane Karkar, Abdelhamid Barakat, Amina Bakhchane, Houda Fettah, Ilham Slassi, Imen Dorboz, Odile Boespflug-Tanguy and Sellama Nadifi

    Citation: BMC Neurology 2015 15:244

    Published on:

  41. Content type: Research article

    Hereditary Spastic Paraplegia (HSP) represents a large group of clinically and genetically heterogeneous disorders linked to over 70 different loci and more than 60 recognized disease-causing genes. A heighten...

    Authors: Nyamkhishig Sambuughin, Lev G. Goldfarb, Tatiana M. Sivtseva, Tatiana K. Davydova, Vsevolod A. Vladimirtsev, Vladimir L. Osakovskiy, Al’bina P. Danilova, Raisa S. Nikitina, Anastasia N. Ylakhova, Margarita P. Diachkovskaya, Anna C. Sundborger, Neil M. Renwick, Fyodor A. Platonov, Jenny E. Hinshaw and Camilo Toro

    Citation: BMC Neurology 2015 15:223

    Published on:

  42. Content type: Research article

    Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive ...

    Authors: Yu-Ri Choi, Young Bin Hong, Sung-Chul Jung, Ja Hyun Lee, Ye Jin Kim, Hyung Jun Park, Jinho Lee, Heasoo Koo, Ji-Su Lee, Dong Hwan Jwa, Namhee Jung, So-Youn Woo, Sang-Beom Kim, Ki Wha Chung and Byung-Ok Choi

    Citation: BMC Neurology 2015 15:179

    Published on:

  43. Content type: Research article

    Impulse control disorder (ICD) and behaviours (ICB) represent a group of behavioural disorders that have become increasingly recognised in Parkinson’s disease (PD) patients who previously used dopaminergic med...

    Authors: Shahidee Zainal Abidin, Eng Liang Tan, Soon-Choy Chan, Ameerah Jaafar, Alex Xuen Lee, Mohd Hamdi Noor Abd Hamid, Nor Azian Abdul Murad, Nur Fadlina Pakarul Razy, Shahrul Azmin, Azlina Ahmad Annuar, Shen Yang Lim, Pike-See Cheah, King-Hwa Ling and Norlinah Mohamed Ibrahim

    Citation: BMC Neurology 2015 15:59

    Published on:

  44. Content type: Case report

    LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like ...

    Authors: Marianna Spatola, Christian Wider, Thierry Kuntzer and Alexandre Croquelois

    Citation: BMC Neurology 2015 15:55

    Published on: