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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. 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

    Content type: Research article

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  2. 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

    Content type: Research article

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  3. 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

    Content type: Case report

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  4. 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

    Content type: Research article

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  5. 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

    Content type: Case report

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  6. 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

    Content type: Research article

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  7. 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

    Content type: Case report

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  8. 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

    Content type: Research article

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  9. 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

    Content type: Case report

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  10. 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

    Content type: Case report

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  11. 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

    Content type: Case report

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  12. 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

    Content type: Case report

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  13. 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

    Content type: Case report

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  14. 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

    Content type: Case report

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  15. 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

    Content type: Research article

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  16. 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

    Content type: Research article

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  17. 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

    Content type: Research article

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  18. 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

    Content type: Case report

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  19. Thyrotoxic periodic paralysis (TPP) is a life-threatening channelopathy manifesting as recurrent episodes of hypokalemia and muscle weakness in the presence of hyperthyroidism. Recent findings indicate defects...

    Authors: Xiaobing Li, Sheng Yao, Yining Xiang, Xiaolei Zhang, Xiangbing Wu, Laimin Luo, Haihua Huang, Min Zhu, Hui Wan and Daojun Hong

    Citation: BMC Neurology 2015 15:38

    Content type: Research article

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  20. Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by mutations in the ROBO3 gene, resulting in a critical absence of crossing fibers in the brainstem.

    Authors: Shuhei Yamada, Yoshiko Okita, Tomoko Shofuda, Ema Yoshioka, Masahiro Nonaka, Kosuke Mori, Shin Nakajima and Yonehiro Kanemura

    Citation: BMC Neurology 2015 15:25

    Content type: Case report

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  21. Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one...

    Authors: Naotoshi Iwahara, Shin Hisahara, Takashi Hayashi, Jun Kawamata and Shun Shimohama

    Citation: BMC Neurology 2015 15:13

    Content type: Case report

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  22. Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. SPG4, SPG3A and SPG31 are the three leading causes of au...

    Authors: Min-Yu Lan, Yung-Yee Chang, Tu-Hseuh Yeh, Szu-Chia Lai, Chia-Wei Liou, Hung-Chou Kuo, Yih-Ru Wu, Rong-Kuo Lyu, Jen-Wen Hung, Ying-Chao Chang and Chin-Song Lu

    Citation: BMC Neurology 2014 14:216

    Content type: Research article

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  23. Intracranial aneurysms are pathological dilatations of the cerebral artery, while rupture of intracranial aneurysms causes life-threatening subarachnoid hemorrhage. The molecular mechanisms of pathogenesis of ...

    Authors: Dehua Liu, Liang Han, Xiao Wu, Xinjian Yang, Qunye Zhang and Fan Jiang

    Citation: BMC Neurology 2014 14:188

    Content type: Research article

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  24. To investigate the association of single-nucleotide polymorphisms (SNPs) in matrix metalloproteinases (MMPs)-2, -3, and -9 and tissue inhibitor of metalloproteinase (TIMP)-2 with moyamoya disease (MMD). We con...

    Authors: Young Seok Park, Young Joo Jeon, Hyun Seok Kim, In Bo Han, Seung-Hun Oh, Dong-Seok Kim and Nam Keun Kim

    Citation: BMC Neurology 2014 14:180

    Content type: Research article

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  25. Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study ...

    Authors: Zhisong Ji, Quanxi Su, Lingling Hu, Qi Yang, Cuixian Liu, Jun Xiong and Fu Xiong

    Citation: BMC Neurology 2014 14:146

    Content type: Research article

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  26. X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. This is an X-linked dominant condition where most affected patients are female a...

    Authors: Monique M LaPointe, Elizabeth L Spriggs and Aizeddin A Mhanni

    Citation: BMC Neurology 2014 14:125

    Content type: Case report

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  27. Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal form...

    Authors: Maik Engeholm, Julia Sekler, David C Schöndorf, Vineet Arora, Jens Schittenhelm, Saskia Biskup, Caroline Schell and Thomas Gasser

    Citation: BMC Neurology 2014 14:118

    Content type: Case report

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  28. An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial en...

    Authors: Chiara La Morgia, Leonardo Caporali, Francesca Gandini, Anna Olivieri, Francesco Toni, Stefania Nassetti, Daniela Brunetto, Carlotta Stipa, Cristina Scaduto, Antonia Parmeggiani, Caterina Tonon, Raffaele Lodi, Antonio Torroni and Valerio Carelli

    Citation: BMC Neurology 2014 14:116

    Content type: Case report

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  29. Non-ataxic symptoms of spinocerebellar ataxias (SCAs) vary widely and often overlap with various types of SCAs. Duration and severity of the disease and genetic background may play a role in such phenotypic di...

    Authors: Pairoj Boonkongchuen, Sunsanee Pongpakdee, Panitha Jindahra, Chutima Papsing, Powpong Peerapatmongkol, Suppachok Wetchaphanphesat, Supachai Paiboonpol, Charungthai Dejthevaporn, Surat Tanprawate, Angkana Nudsasarn, Chanchai Jariengprasert, Dittapol Muntham, Atiporn Ingsathit and Teeratorn Pulkes

    Citation: BMC Neurology 2014 14:75

    Content type: Research article

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  30. 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

    Content type: Case report

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  31. 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

    Content type: Research article

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  32. 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

    Content type: Research article

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  33. 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

    Content type: Research article

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  34. 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

    Content type: Research article

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  35. 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

    Content type: Research article

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  36. 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

    Content type: Research article

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  37. 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

    Content type: Case report

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  38. 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

    Content type: Research article

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  39. 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

    Content type: Research article

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  40. 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

    Content type: Case report

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  41. 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

    Content type: Research article

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  42. 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

    Content type: Case report

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  43. 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

    Content type: Research article

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  44. 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

    Content type: Case report

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  45. 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

    Content type: Research article

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  46. 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

    Content type: Research article

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