???? ?????????? ?????

???? ?????????? ?????
????	??????????
?????	edaravone ; riluzole ; edaravone ; riluzole ;
??????? ?????? ????
eMedicine	1170097
MeSH	D000690
???????
ICD-11	8B60.0

???? ?????????? ????? (Amyotrophic Lateral Sclerosis ‏( ALS )); ????? ?? ?????? ???? ?? ???? , ?? ?? ???? ? ??????? ???? ?? ? ???? ?-30 ?? ???? ?-20 , ?? ?????? ???? ??????? ??????? ( MND ), ??????? ?????? ????? ??????, ??? ???? ??????? ?????? ? ??? ????? ?????? ??????? ???????? ??????? ??????. ALS ??? ???? ??????? ??????, ??????? ?? ???? ?????? ??????? ???? ?? ????? ????. ?????? ????? ?????, ?? ?? ?????? ??? ?????? ??-1 ?? 8 ????? ?-100,000, ^[1] ??????? ??????? ????? 600?700 ?????. ^[2]

????? ????? ???? ????? ????? ??? ???? ??? ??? ???? ???? ????. ?-10% ??????? ?? ?????? ????? ???? 10 ???? ????? ?????, ?? ??? ?????? ?? ?????? ???????? ?? ??? ????? ? ???? ????? . ????? ????? ? ??? ???? ??????? ?????? ?? ? ??? ?? ?????? ?? ????? ? ?????? ???????? ????. ??? ???? ??????, ??? ??? ?????? ?????? ?? ???????, ??? ????? ????????? ?? ??? ?????? . ????? ????, ??? ????? ??????, ??????, ?????? ?? ????? , ?????? ??????, ???? ???? ????? ????. ????? ????? ????? ????? ?????? ?? ?? ?????? ?? ????? ??????. ???? ????? ?????? ????? ??? 46?65, ?? ?? ???? ????? ??????? (?????? ????? ?????? ) ?? ????? ????? ?? ???? ???? ?? ????? ????.

?????????? [ ????? ??? ???? | ????? ]

????? ????? ?????? ??????? ?????????? ???? ??????? ?????? ???? ?? ????????? ? ???????? ???????? ?????????. ?????? ???????? ???? ?????? ?????, ?? ?????? ?????????. ????? ?????? ????? ????? ?? ??? ?????? ?? ?????? ????? ?????? ??? ??????? ????????. ?????? ????? ?? ??????? ???????? ??????? ?? ??????? ???????? ??????? ?? ?????? ???????. ?????? ?????, ?? ????, ?? ???? ????? ?? ?????.
???, ???? ???, ????? ?????????? ???? ??????, ?? ???? ??? (???? 5%) ???? ? ?????? ?????? ? ????? ??????? . ??? ???? ???? ?? ?????? (30%?50) ???? ??????? ??????????? ????, ?????? ?? ?????? ???, ?? ?????? ?????? ???????????????. ???? ? ???? ?????? ??????? ? ????? ?????????? ???? ??????, ???? ??? ?????? ?????? ?? ???? ?????, ?????, ???, ??? ????.

?????????? ???????? ?? ????? ??:

????? ?????? ? ????? .
??????? ?”??????” ??????? (??????????), ????? ?????? ?????? ????????.
???? ?????? ??????? ???.
???? ????? ??????.

?????? ??? ?????? ?????? ?????? ????????, ???? ???? ?? ????? ?????.

????? ????? [ ????? ??? ???? | ????? ]

??? ????? ????? ?????? ?? ?????, ?? ?? ???? ?????? ?????? ?? ??? ????????. ??????? / ?????? ??? ?????? ?????? ??? ?? ????? ????? ????? ?? ??????? ????? ????? ??????. ^[3]

?????? ????? [ ????? ??? ???? | ????? ]

????? ?????? [ ????? ??? ???? | ????? ]

?-10% ??????? ????? ????????? ?-ALS ?????? (FALS-familial ALS), ??? ?????? ???? ??? ????? (???? ?? ????? ???????) ????? ??????? ?? ?????. ??????? ? ???????? 21 , ????? ??? ????? ?????? ?????????? ???????? 1 (1 SOD1 - superoxide dismutase), ??????? ??-20% ??????? ?? ALS ??????, ?? ?-2% ???? ?????? ?-ALS. ???????? ??? ??? ??????? ????? ?????????? ?????????. ?????? ???? ?-100 ??????? ??? ???? ??? ??????? ???. ??????? ?????? ????? ?-SOD1 ?????? ?????? ????? ?????? ??? A4V, ???????? ?????? ???? ?? ALS ??? ???? ??????? ????? ???? ??? ??? ???????? ??? ????? ?? ?????.

??????? ?????? ????? ?-SOD1 ?????? ??????????, D90A, ??????? ?????? ???? ???? ?? ALS ??? ???? ??????? ???? ???? ?? ????? ??? ?????? ?? ?????? ?????? ?-10 ????.

?-2011, ????? ????? ?????? ???? hexanucleotide repeat ????? ????? ????? ???? C9ORF72 ?????? ?-ALS ???????? ??????? ?? ????? ?????? (ALS-FTD - frontotemporal dementia). ??????? ????? ?-6% ??????? ?? ALS ????????? ?????.

????? ????? ?? ??????? ??? ????? ?-ALS ?????? (??? ???????? ???????) ????? ????? ???????? ?? ????? ??????? ???? ???? ???? ????, ???????? ???????? ?? ????? ???? ????????? ???????? ?????.

???? ?????, ???? ??????? ?????? ???? ??????? ????? ???? ALS:

???	OMIM	??	?????	?????
ALS1	105400	SOD1	21q22.1	????? ?????? ????? ?? ALS ???????
ALS2	205100	ALS2	2q33.1
ALS3	606640	?	18q21
ALS4	602433	SETX	9q34.13
ALS5	602099	?	15q15.1?q21.1	??????? ?????? ?? ?????
ALS6	608030	FUS	16p11.2
ALS7	608031	?	20p13
ALS8	608627	VAPB	20q13.3
ALS9	611895	ANG	14q11.2
ALS10	612069	TARDBP	1p36.2
ALS11	612577	FIG4	6q21
ALS12	613435	OPTN	10p13
ALS13	183090	ATXN2	12q24.12
ALS14	613954	VCP	9p13.3	???? ????, ????? ?? ?????? ??? ^[4]
ALS15	300857	UBQLN2	Xp11.23?p11.1	???? ?? ?????? ???. ^[5]
ALS16	614373	SIGMAR1	9p13.3	???? ????, ???? ?? ?????? ???. ??????? ??????. ^[6]
ALS17	614696	CHMP2B	3p11	???? ????, ???? ?? ????? ???? ?? ?????.
ALS18	614808	PFN1	17p13.3	???? ????, ???? ????? ???? ?? ????? ?????. ^[7]
ALS19	615515	ERBB4	2q34

?????????? ???????? 1 (SOD1) [ ????? ??? ???? | ????? ]

???? ?? ???? ?? ???? ???? ?????? ?? ????? ?????? , ???? ?????, ??????? ???? ??????. ??? ???? ???? ?? ?????? ????? ??????? ???? ?????? ?????? ??????? ???? ????? ????? ??????? ???????? ? ????? ?????? .

????? ??????? ?-ALS ????? ???? ?????. ?? ???, ??? ??????? ???? ????? ???? ???? 1993 ???? ?????? ???? ??????? ??? ?????? ?? ? ????? ?????????? ???????? ?????/??? (SOD1), ?????? ?? 20% ??????? ?? ALS ?????? (FALS). ????? ?? ??? ???? ?????? ??? ??? ??? ?? ???? ???? ?????? ??????????. ?????????? ??? ????? ????? ???? ?????? ? ??????????? ???? ?????? ??????. ??????? ??????? ?? ???????? ????????? ???? ???????? ?? ??? ????? ?????? ?? ???????? ????. ?? ?????? ?????? ?????? ???? ???????? ????"? ????? ??????????? ?? ????? ??? . ?? ????, ???? ?-110 ???????? ?????? ?-SOD1 ????? ?-ALS. ??? ????????? (?????? H46R) ??????? ??????? ???? ?????? ????? ?? ????? ????? ??????? ????? (?????? A4V) ???????? ??????? ???????? ????. ????? ??????? ????? ????? ??????? ????? ?? ????? ???? ??? ?????? ?????? ????? ? ???? ??? ?????? ( ???????? ).

?? ?? ?? ?????? ?? ???? ??????? ???? ??????? ?-SOD1 ?????? ????????? ????????? ??????? ?? ?????, ?????? ?????? ???? ???????? ?? ???????? ???????? ?????? ???? ??????? ??????/??? ??"?. ????? ????? ??? ?????? ????? ??????? ??? ????? ?? ?????? ?????? ?????? ????????.

??????? ??? ???? ?????? ?????????? ????? ???? ??????? ???? ?????? ?? SOD1 ?-ALS ??????. ?????? ???? SOD1 (???? knockout ???) ???? ??? ALS, ?? ?? ?? ??? ????? ????? ?????? ????? ????? ( ???????? ) ???? ???? ????? ???? ???? ????. ??????? ??? ????? ??????? ????????? ?-SOD1 ???? ?????? ????? ?????? ?? ?????? ?????? ???????? ????????, ??? ????? ????? ??????? ??? ???? ???? ?????? ???? ????? ???. ?????, ??????? ??????? ???? ???? ????? ??????? ??????? ??????? ?????? ?? ???? ALS ?????? ???????.

???? ?????? ???? ??????? ?????????? ??? ??? (??? ?????? ??????? ?-G93A ??? SOD1) ??? ??????? (???? ??????? ??? ?? ?????? ?????) ??? ????? ?????? ??????, ??????? ????????? ???????? ??? ????? ???????. ?????? ?????? ??? ????? ??????? ???????? ????? ?-SOD1 ?????? ????? ??????? ?????? ????????? ??????? ????? ???? ????? ????????????, ????? ? ???????? , ? ??????? ??????? ?? ????? ??????? ?? ????????? ?????. ??????? ??? ?????? ??? ??????? ?? ?? ????????? ?-SOD1 ??????? ?? ?? 2% ???? ?????? ?? ALS, ???? ????? ?? ?????? ?????, ???? ????????? ???? ????? (?????? ?????? ????????). ?? ???, ????? ?????? ???? ????? ??????? ???-??????? ??? ?????? ?????????? ALS-SOD1, ???? ?????? ????? ??????? ????? ???????? ???? ??????? ?????.

????? ????? [ ????? ??? ???? | ????? ]

???? ??? ???????? ??????? ??????, ??? ????? ???? 95% ???????, ?? ????? ????? ???????? ??? ?????.

?????? ??????? ?????? ?? ? ????? ????? ?????? ????????? ?? ????????? ?????????. ?????? ??? ??? ????????? ??????? ???????? ????. ?????? ???? ???????? ?????? ??????, ????? ALS ?? ???? ?????? ???? ?? ?????? ? ???? ?? ???? ????? . ??????? ??? ?????? ?????? ???? ????? ??? ?????? ?? ??? ?-FDA ?????? ?-ALS ???? ?????? ?? ????? ?? ?????? ???? ???. ?????? ?? ????? ??????? ?? ?????? ??????, ??? ?????? ????? ? ?????? ???? ????? ?????? ?????.

?????? ?????? ??????? ?? ??? ??? ALS ??????, ?????? ??? ?????? ?????? ????? ???????? ???????, ????? ????? ???? ????????, ?????? ?????? ??? ?? ????? ??????? ?? ?? ????? ????? ALS. ?????? ????? ????? ??? ?????? ???? ?? ????? ???? ?????? ?????? ?????? ?? ???? ?? ??? ?????, ??? ?????? ????? ??? ????? ?? ???, ?????? ??? ??? ????, ??? ???? ?????? ????? ?????? ?????.

??-97% ????? ALS ????? ????? ?? ?????? TDP-43 ???? ????? ???. ??????? ?????? ?????? ????? ???? ???? ?? ?????? ?????? ????? ?????? ?? ?????. ^[8]

?-2019 ????? ???? ^[9] ?????? ? ???? ????? ???? ???? ?? ???? ??? ???? ?-ALS ???? ?????? ? ??? ?? ??????. ????? ????? ??????? ? ?????? ? ?????? ?? ????? ????? ?-ALS. ????? ???? ?? ??????? ?????? ???? ??????, ???? ??? ??? ????? ????? ????????? ?????? ?? ????????? ?????? ????. ????? ?? ??? ?????? ?????? ?? ?????? ??????????, ????? ??????? ??????? ????? ???????? ?? ??? ?????? ??? ????? ????? ??????? ???? ??? ?? ?????. ??? ?????? ?????? ??????? ?? ?????? ??? ?? ????? ?? ?????? ???????? ?? ????? ??? ?? ????? ????????. ???? ??? ???? ????? ?? ?????? ????, ????? ?? ?? ??????? ??? ???????? ?????????? ??? ??? ????? ????? ?? ??????? ???????? ?????? ????. ^[10]

????? ?????? ???????? [ ????? ??? ???? | ????? ]

??? ????? ? ???? ??? ????

? ?????? 2014 ???? ????? ??????? ???? ???? ? ??????? ??? ?????? ???? ?????? ????? ?????? 2019, ?????? ??? ????? ??????? ????? ?????. ?????? ?????? ????? ?????? ???? ?? ?????? ?? ???? ??? ??? ??? ????, ?? ????? ??? ??????? ALS. ???? ???? ???? ?????, ??? ????? ????? ????? ?????? ????? ?? ?????, ??? ?????? ????? ??????? ???? ????, ????? ??????? ??????? ?????.

??? ?? [ ????? ??? ???? | ????? ]

??????? ???????? [ ????? ??? ???? | ????? ]

???? ?????? ????? ???? ?????????? ????? ? ??????????

????? "??????" - ????? ???? ????? ??????? ?????? ???? ??????
????? "??? ?????" - ?????? ?????? ??? ???? ALS
????? ???? ????? ALS
????? ???????? ????? ALS
??? ????, ALS ? ???? ?????? ????????? , ????? " ???? ???? " ???? ?? ???? ??????? ?????? ???? , 2 ?????? 2009
???? ????? ?????? ?? ????????? ?? ?? ?????? ?? ?????
??? ????, "??? ?????, ???? ???? ???? ???? ???" , ???? ????? ???? , 26 ????? 2013
???? ?? ???? ???? , ???? ALS ????? ?? ????????? ?? ????? (???? ?-2011). ????? ?????? ?? ????
???? ???, ?? ????? ?????? - ????? ???? ?? ???? ??????? , ???? ynet , 23 ????? 2007
???? ?? ?"? ????? ????-??? ?????????? ?? ?????. ???? ????? ?? ????-??? .
????? ????‏, ???? "??? ?? ?????" ??? ??????? ????? , ???? ????? ‏, 26 ????? 2008
????? ???, ?????? ???? ??: ????? ?? 5 ???? ?? ????? , ???? ynet , 22 ????? 2010 - ???? ?? ????? ???, ???? ALS, ????? ?? ????????? ?? ????? ????? ????? ????????? ????
?????? ?????'??, ????? ?' ?????, ? ?????? ????? ????? ALS ???? ??????? ??????? , ????? ????????? ?????? ?? ???? ??????? , 13 ????? 2017
???? ?? ???? , ?? ??? ? ?????? ???????

????? ?????? [ ????? ??? ???? | ????? ]

^ Chio, Global Epidemiology of Amyotrophic Lateral Sclerosis: a Systematic Review of the Published Literature , ??????? ???????? ??????? ?? ????? ?????, ‏???? 2013 (???????)
^ ?? ?? ????? ??????
^ ???? ????? ????, ALS ????? ?????? ( ?????? )
^ Johnson, Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , Neuron, Volume 68, Issue 5, p857?864, 9 December 2010, ‏????? 2010 (???????)
^ Deng, Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia , Nature 477, 211?215 (08 September 2011), ‏21-??????-2011 (???????)
^ Al-Saif A, Al-Mohanna F, Bohlega S (2011). "A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis". Annals of Neurology . 70 (6): 913?919. doi : 10.1002/ana.22534 . PMID 21842496 . {{ cite journal }}: ?????? - ?????: ????? ?????? authors ( link )
^ Wu (2012). "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis" . Nature . 488 (7412): 499?503. doi : 10.1038/nature11280 . PMC 3575525 . PMID 22801503 . {{ cite journal }}: ?????? - ?????: ????? ?????? authors ( link )
^ Scientists Report Explanation for Protein Clumps in Autopsy Brain Cells of ALS Patients , ???? ?????????? ?'??? ??????? , 6 ??????? 2015
^ Eran Blacher, Stavros Bashiardes, Potential roles of gut microbiome and metabolites in modulating ALS in mice , Nature , 22/07/2019
^ ?"? ??? ????, ????? ??? , ???? ??? ????, ????? , ‏26 ??????? 2019

?????: ????? ?????????? ???? ?????? ???? ? ???? ????? ????? ????? .

[1] Chio, Global Epidemiology of Amyotrophic Lateral Sclerosis: a Systematic Review of the Published Literature , ??????? ???????? ??????? ?? ????? ?????, ‏???? 2013 (???????)

[2] ?? ?? ????? ??????

[3] ???? ????? ????, ALS ????? ?????? ( ?????? )

[4] Johnson, Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , Neuron, Volume 68, Issue 5, p857?864, 9 December 2010, ‏????? 2010 (???????)

[5] Deng, Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia , Nature 477, 211?215 (08 September 2011), ‏21-??????-2011 (???????)

[6] Al-Saif A, Al-Mohanna F, Bohlega S (2011). "A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis". Annals of Neurology . 70 (6): 913?919. doi : 10.1002/ana.22534 . PMID 21842496 . {{ cite journal }}: ?????? - ?????: ????? ?????? authors ( link )

[7] Wu (2012). "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis" . Nature . 488 (7412): 499?503. doi : 10.1038/nature11280 . PMC 3575525 . PMID 22801503 . {{ cite journal }}: ?????? - ?????: ????? ?????? authors ( link )

[8] Scientists Report Explanation for Protein Clumps in Autopsy Brain Cells of ALS Patients , ???? ?????????? ?'??? ??????? , 6 ??????? 2015

[9] Eran Blacher, Stavros Bashiardes, Potential roles of gut microbiome and metabolites in modulating ALS in mice , Nature , 22/07/2019

[10] ?"? ??? ????, ????? ??? , ???? ??? ????, ????? , ‏26 ??????? 2019

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]