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Neurogenetics

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. Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the ...

    Authors: Ying Huang, Ge Jin, Qun-ling Zhan, Yun Tian and Lu Shen

    Citation: BMC Neurology 2021 21:142

    Content type: Case report

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  2. Collagen VI-related dystrophies are a subtype of congenital muscular dystrophy caused by pathogenic variants in COL6A1, COL6A2 or COL6A3 genes affecting skeletal muscles and connective tissue. The clinical phenot...

    Authors: Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann and Vajira H. W. Dissanayake

    Citation: BMC Neurology 2021 21:105

    Content type: Case report

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  3. Due to large genetic and phenotypic heterogeneity, the conventional workup for Charcot-Marie-Tooth (CMT) diagnosis is often underpowered, leading to diagnostic delay or even lack of diagnosis. In the present s...

    Authors: Hui Jiang, Chunmiao Guo, Jie Xie, Jingxin Pan, Ying Huang, Miaoxin Li and Yibin Guo

    Citation: BMC Neurology 2021 21:96

    Content type: Case report

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  4. CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosom...

    Authors: Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan and Giovanni Stevanin

    Citation: BMC Neurology 2021 21:78

    Content type: Case report

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  5. ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal reces...

    Authors: Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji and Yoshihisa Takiyama

    Citation: BMC Neurology 2021 21:64

    Content type: Case report

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  6. Efforts to identify potential biomarkers for the diagnosis of ischemic stroke (IS) are valuable. The H19 gene plays a functional role in increasing the prevalence of IS risk factors. We evaluated the correlati...

    Authors: Mohadese Rezaei, Mohammad Javad Mokhtari, Mahnaz Bayat, Anahid Safari, Mehdi Dianatpuor, Reza Tabrizi, Tahereh Asadabadi and Afshin Borhani-Haghighi

    Citation: BMC Neurology 2021 21:54

    Content type: Research article

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  7. Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographi...

    Authors: Junyu Lin, Lingyu Zhang, Bei Cao, Qianqian Wei, Ruwei Ou, Yanbing Hou, Xinran Xu, Kuncheng Liu, Xiaojing Gu and Huifang Shang

    Citation: BMC Neurology 2021 21:28

    Content type: Research article

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  8. SPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is the most common cause in complicated forms of HSP, usually presenting comprehensive mental retardati...

    Authors: Chuan Li, Qi Yan, Feng-ju Duan, Chao Zhao, Zhuo Zhang, Ying Du and Wei Zhang

    Citation: BMC Neurology 2021 21:12

    Content type: Research article

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  9. Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degenerati...

    Authors: Arianna Manini, Tommaso Bocci, Alice Migazzi, Edoardo Monfrini, Dario Ronchi, Giulia Franco, Anna De Rosa, Ferdinando Sartucci, Alberto Priori, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Manuela Basso and Alessio Di Fonzo

    Citation: BMC Neurology 2020 20:408

    Content type: Case report

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  10. Complement C4A or C4B deficiency has never been reported in autoantibody-associated encephalitides patient. Here we present a case of anti-N-methyl- D-aspartate (NMDA) receptor encephalitis associated with homozy...

    Authors: Gilbert T. Chua, Danlei Zhou, Alvin Chi Chung Ho, Sophelia Hoi Shan Chan, Chack Yung Yu and Yu Lung Lau

    Citation: BMC Neurology 2020 20:339

    Content type: Case report

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  11. Primary familial brain calcification (PFBC) is a rare inherited disease characterized by multiple calcified foci in the brain parenchyma. MYORG is the first gene found to be associated with autosomal recessive PF...

    Authors: Shih-Ying Chen, Wei-Che Lin, Yung-Yee Chang, Tsu-Kung Lin and Min-Yu Lan

    Citation: BMC Neurology 2020 20:329

    Content type: Case report

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  12. Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in abou...

    Authors: Claudia Santoro, Teresa Giugliano, Pia Bernardo, Federica Palladino, Annalaura Torella, Francesca del Vecchio Blanco, Maria Elena Onore, Marco Carotenuto, Vincenzo Nigro and Giulio Piluso

    Citation: BMC Neurology 2020 20:327

    Content type: Case report

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  13. Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. ...

    Authors: Hajar Aryan, Ehsan Razmara, Dariush Farhud, Marjan Zarif-Yeganeh, Shaghayegh Zokaei, Seyed Abbas Hassani, Mahmoud Reza Ashrafi, Masoud Garshasbi and Ali Reza Tavasoli

    Citation: BMC Neurology 2020 20:291

    Content type: Case report

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  14. Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of mass...

    Authors: G. E. Rudenskaya, V. A. Kadnikova, O. P. Ryzhkova, L. A. Bessonova, E. L. Dadali, D. S. Guseva, T. V. Markova, D. N. Khmelkova and A. V. Polyakov

    Citation: BMC Neurology 2020 20:290

    Content type: Research article

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  15. Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group...

    Authors: Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai and Stefano Gambardella

    Citation: BMC Neurology 2020 20:258

    Content type: Case report

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  16. A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described.

    Authors: Yuki Yokota, Makoto Hara, Takayoshi Akimoto, Tomotaka Mizoguchi, Yu-ichi Goto, Ichizo Nishino, Satoshi Kamei and Hideto Nakajima

    Citation: BMC Neurology 2020 20:247

    Content type: Case report

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  17. Spastic ataxia of Charlevoix-Saguenay is a neurodegenerative condition due to mutations in the SACS gene and without a cure. Attempts to treatments are scarce and limited to symptomatic drugs.

    Authors: Ivana Ricca, Alessandra Tessa, Rosanna Trovato, Giacomo Maria Bacci and Filippo Maria Santorelli

    Citation: BMC Neurology 2020 20:215

    Content type: Case report

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  18. Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Sa...

    Authors: Mohammed Z. Seidahmed, Muddathir H. Hamad, Albandary AlBakheet, Salah A. Elmalik, Abdulmajeed AlDrees, Jumanah Al-Sufayan, Ibrahim Alorainy, Ibrahim M. Ghozzi, Dilek Colak, Mustafa A. Salih and Namik Kaya

    Citation: BMC Neurology 2020 20:207

    Content type: Case report

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  19. Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervo...

    Authors: Mingming Li, Kai Li, Xin Li, Yun Tian, Lu Shen, Guode Wu, Zaiqiang Zhang and Weian Chen

    Citation: BMC Neurology 2020 20:125

    Content type: Case report

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  20. Spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord is better known as herniated spinal cord. There are many arguments in favour of considering it a developmental defect. From this poin...

    Authors: Ronald H. M. A. Bartels, J. Andre Grotenhuis, Alexander P. A. Stegmann and Han Brunner

    Citation: BMC Neurology 2020 20:121

    Content type: Case report

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  21. Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accu...

    Authors: Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania and Elena Corradini

    Citation: BMC Neurology 2020 20:113

    Content type: Case report

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  22. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneit...

    Authors: Ruojie He, Huan Li, Yiming Sun, Menglong Chen, Liang Wang, Yuling Zhu and Cheng Zhang

    Citation: BMC Neurology 2020 20:72

    Content type: Case report

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  23. Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families ref...

    Authors: Xueping Chen, Jiao Liu, Qian-Qian Wei, Ru Wei Ou, Bei Cao, Xiaoqin Yuan, Yanbing Hou, Lingyu Zhang and Huifang Shang

    Citation: BMC Neurology 2020 20:2

    Content type: Research article

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  24. Charles Bonnet syndrome is characterized by simple or complex visual hallucinations (VH) due to damage along the visual pathways. We report a functional MRI study of brain correlates of VH in the context of a ...

    Authors: V. Vacchiano, C. Tonon, M. Mitolo, S. Evangelisti, M. Carbonelli, R. Liguori, R. Lodi, V. Carelli and C. La Morgia

    Citation: BMC Neurology 2019 19:350

    Content type: Case report

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  25. Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostl...

    Authors: Jeremias Motte, Anna Lena Fisse, Thomas Grüter, Ruth Schneider, Thomas Breuer, Thomas Lücke, Stefan Krueger, Huu Phuc Nguyen, Ralf Gold, Ilya Ayzenberg and Gisa Ellrichmann

    Citation: BMC Neurology 2019 19:345

    Content type: Case report

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  26. Meningeal carcinomatosis (MC) is the most severe form of brain metastasis and causes significant morbidity and mortality. Currently, the diagnosis of MC is routinely confirmed on the basis of clinical manifest...

    Authors: Yue Zhao, Jun-Ying He, Yue-Li Zou, Xiao-Su Guo, Jun-Zhao Cui, Li Guo and Hui Bu

    Citation: BMC Neurology 2019 19:331

    Content type: Research article

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  27. Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicia...

    Authors: Aleksandra Klimkowicz-Mrowiec, Anna Dziubek, Malgorzata Sado, Marek Karpiński and Agnieszka Gorzkowska

    Citation: BMC Neurology 2019 19:322

    Content type: Case report

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  28. Parkinsonism is a complex multifactorial neurodegenerative disorder, in which genetic and environmental risk factors may both play a role. Among environmental risk factors cocaine was earlier ambiguously linke...

    Authors: Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási and Maria Judit Molnar

    Citation: BMC Neurology 2019 19:260

    Content type: Case report

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  29. To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine.

    Authors: Abhimanyu S. Ahuja, Todd D. Rozen and Paldeep S. Atwal

    Citation: BMC Neurology 2019 19:246

    Content type: Case report

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  30. 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

    Content type: Research article

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  31. 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

    Content type: Case report

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  32. 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

    Content type: Case report

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  33. 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

    Content type: Research article

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  34. 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

    Content type: Case report

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  35. 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

    Content type: Case report

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  36. 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

    Content type: Case report

    Published on:

  37. 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

    Content type: Research article

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  38. 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

    Content type: Case report

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  39. 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

    Content type: Research article

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  40. 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

    Content type: Research article

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  41. 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

    Content type: Case report

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  42. 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

    Content type: Research article

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  43. 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

    Content type: Case report

    Published on:

  44. 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

    Content type: Research article

    Published on:

  45. 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

    Content type: Case report

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