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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

    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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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