“Juvenile Amyotrophic Lateral Sclerosis ”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ALS) 肌萎缩性侧索硬化症。

Here I present: “Juvenile Amyotrophic Lateral Sclerosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALS) 肌萎缩性侧索硬化症。

INTRODUCTION.

Autosomal recessive mutations in the alsin (ALS2) gene lead to a clinical spectrum of motor dysfunction including juvenile  amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis, and hereditary spastic paraplegia. The 184-kDa alsin protein is encoded by the full-length (ALS2) gene.

There is evidence juvenile amyotrophic lateral sclerosis-2 (ALS2) can be caused by homozygous mutation in the gene encoding alsin (ALS2) on cytogenetic location 2q33.1 and genomic coordinates   2:201,700,267-201,780,933 . The screenshot of the alsin (ALS2) gene 80,667 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides ALS2 in the 2q33.1 cytogenetic location are listed BENEATH.  

Coordinate	Symbol	Genomic Name.
2:201,451,740	STRADB	STE20-related kinase adaptor beta
2:201,487,421	C2CD6	C2 calcium-dependent  protein 6
2:201,620,186	TMEM237	Transmembrane protein 237
2:201,644,874	MPP4	Membrane protein, palmitoylated 4
2:201,700,267	ALS2	Alsin Rho guanine nucleotide exchange
2:201,806,429	CDK15	Cyclin-dependent kinase 15
2:202,033,855	FZD7	Frizzled class receptor 7
2:202,206,171	SUMO1	Small ubiquitin-like modifier 1
2:202,265,763	NOP58	NOP58 ribonucleoprotein
2:202,376,327	BMPR2	Bone morphogenetic receptor, type II