Juvenile Amyotrophic Lateral Sclerosis: A Review

被引:23
|
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.
引用
收藏
页数:16
相关论文
共 50 条
  • [1] Juvenile Amyotrophic Lateral Sclerosis: a mini review of literature
    Katerelos, Adamantios
    JOURNAL OF MEDICAL SCIENCE, 2024, 93 (03): : 249 - 256
  • [2] Juvenile amyotrophic lateral sclerosis
    Anju Aggarwal
    The Indian Journal of Pediatrics, 2006, 73 (3) : 225 - 226
  • [3] JUVENILE FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS
    BAI, KI
    SASTRY, VN
    RAO, GK
    INDIAN PEDIATRICS, 1978, 15 (12): : 1047 - 1048
  • [4] FAMILIAL JUVENILE AMYOTROPHIC LATERAL SCLEROSIS
    VANPELT, JC
    COPPLE, PJ
    NEUROLOGY, 1969, 19 (03) : 318 - &
  • [5] Amyotrophic Lateral Sclerosis: Review
    Salameh, Johnny S.
    Brown, Robert H., Jr.
    Berry, James D.
    SEMINARS IN NEUROLOGY, 2015, 35 (04) : 469 - 476
  • [6] FAMILIAL JUVENILE AMYOTROPHIC LATERAL SCLEROSIS IN CHILDREN
    LAGOS, JC
    SOUTHERN MEDICAL JOURNAL, 1969, 62 (12) : 1558 - &
  • [7] NON FAMILY JUVENILE AMYOTROPHIC LATERAL SCLEROSIS
    BILLY, C
    JALLON, P
    MEDECINE ET ARMEES, 1988, 16 (05): : 398 - 398
  • [8] CHARCOTS DISEASE AND JUVENILE AMYOTROPHIC LATERAL SCLEROSIS
    HAMIDA, MB
    HENTATI, F
    REVUE NEUROLOGIQUE, 1984, 140 (03) : 202 - 206
  • [9] A rare case of juvenile amyotrophic lateral sclerosis
    Bodur, Muhittin
    Toker, Rabia Tutuncu
    Basak, Ayse Nazli
    Okan, Mehmet Sait
    TURKISH JOURNAL OF PEDIATRICS, 2021, 63 (03) : 495 - 499
  • [10] Autosomal dominant juvenile amyotrophic lateral sclerosis
    Rabin, BA
    Griffin, JW
    Crain, BJ
    Scavina, M
    Chance, PF
    Cornblath, DR
    BRAIN, 1999, 122 : 1539 - 1550