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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. 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

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  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. Content type: Case report

    DNA methyltransferase 1 (EC 2.1.1.37), 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

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  7. 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

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  8. 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

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  10. 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

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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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    The Correction to this article has been published in BMC Neurology 2019 19:16

  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  22. 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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  23. 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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  24. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  32. 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

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. Content type: Research article

    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

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  39. Content type: Case report

    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

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  40. Content type: Case report

    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

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  41. Content type: Research article

    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

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  42. Content type: Research article

    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

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  43. Content type: Research article

    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

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  44. Content type: Research article

    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

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  45. Content type: Case report

    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

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  46. Content type: Case report

    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

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  47. Content type: Case report

    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

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  48. Content type: Research article

    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

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  49. 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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  50. 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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