Juvenile Amyotrophic Lateral Sclerosis: A Review

被引:24
作者
Lehky, Tanya [1 ]
Grunseich, Christopher [2 ]
机构
[1] NINDS, EMG Sect, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
[2] NINDS, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
基金
美国国家卫生研究院;
关键词
motor neuron disease; familial amyotrophic lateral sclerosis; FUS; SETX; ALS2; NUCLEOTIDE EXCHANGE FACTOR; SIGMA-1; RECEPTOR; FUS MUTATION; EARLY-ONSET; ALS2; GENE; FORM; FEATURES; LINKAGE; PROTEIN; SITES;
D O I
10.3390/genes12121935
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis.
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页数:16
相关论文
共 80 条
[21]   Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene [J].
Eymard-Pierre, E ;
Lesca, G ;
Dollet, S ;
Santorelli, FM ;
di Capua, M ;
Bertini, E ;
Boespflug-Tanguy, O .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (03) :518-527
[22]   UBQLN2 Mutation Causing Heterogeneous X-Linked Dominant Neurodegeneration [J].
Fahed, Akl C. ;
McDonough, Barbara ;
Gouvion, Cynthia M. ;
Newell, Kathy L. ;
Dure, Leon S. ;
Bebin, Martina ;
Bick, Alexander G. ;
Seidman, Jonathan G. ;
Harter, Donald H. ;
Seidman, Christine E. .
ANNALS OF NEUROLOGY, 2014, 75 (05) :793-798
[23]   Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4 [J].
Grunseich, Christopher ;
Patankar, Aneesh ;
Amaya, Joshua ;
Watts, Jason A. ;
Li, Dongjun ;
Ramirez, Prisila ;
Schindler, Alice B. ;
Fischbeck, Kenneth H. ;
Cheung, Vivian G. .
ANNALS OF NEUROLOGY, 2020, 87 (04) :547-555
[24]   Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters [J].
Grunseich, Christopher ;
Wang, Isabel X. ;
Watts, Jason A. ;
Burdick, Joshua T. ;
Guber, Robert D. ;
Zhu, Zhengwei ;
Bruzel, Alan ;
Lanman, Tyler ;
Chen, Kelian ;
Schindler, Alice B. ;
Edwards, Nancy ;
Ray-Chaudhury, Abhik ;
Yao, Jianhua ;
Lehky, Tanya ;
Piszczek, Grzegorz ;
Crain, Barbara ;
Fischbeck, Kenneth H. ;
Cheung, Vivian G. .
MOLECULAR CELL, 2018, 69 (03) :426-+
[25]   A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34 [J].
Hadano, S ;
Nichol, K ;
Brinkman, RR ;
Nasir, J ;
Martindale, D ;
Koop, BF ;
Nicholson, DW ;
Scherer, SW ;
Ikeda, JE ;
Hayden, MR .
GENOMICS, 1999, 55 (01) :106-112
[26]   A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 [J].
Hadano, S ;
Hand, CK ;
Osuga, H ;
Yanagisawa, Y ;
Otomo, A ;
Devon, RS ;
Miyamoto, N ;
Showguchi-Miyata, J ;
Okada, Y ;
Singaraja, R ;
Figlewicz, DA ;
Kwiatkowski, T ;
Hosler, BA ;
Sagie, T ;
Skaug, J ;
Nasir, J ;
Brown, RH ;
Scherer, SW ;
Rouleau, GA ;
Hayden, MR ;
Ikeda, JE .
NATURE GENETICS, 2001, 29 (02) :166-173
[27]  
Harms MM, 1993, GENEREVIEWS
[28]   LINKAGE OF RECESSIVE FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS TO CHROMOSOME 2Q33-Q35 [J].
HENTATI, A ;
BEJAOUI, K ;
PERICAKVANCE, MA ;
HENTATI, F ;
SPEER, MC ;
HUNG, WY ;
FIGLEWICZ, DA ;
HAINES, J ;
RIMMLER, J ;
BENHAMIDA, C ;
BENHAMIDA, M ;
BROWN, RH ;
SIDDIQUE, T .
NATURE GENETICS, 1994, 7 (03) :425-428
[29]   Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment [J].
Hirayanagi, Kimitoshi ;
Sato, Masayuki ;
Furuta, Natsumi ;
Makioka, Kouki ;
Ikeda, Yoshio .
INTERNAL MEDICINE, 2016, 55 (06) :689-693
[30]   A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis [J].
Huang, Xiao ;
Fan, Dongsheng .
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2017, 18 (5-6) :454-456