Erratum to “Progress in Therapy Development for Amyotrophic Lateral Sclerosis”
Table 1
Mendelian and non-Mendelian loci known to cause FALS or confer risk for SALS. Information in this table reproduces content in Tables 7 and 8 from Lill and Bertram, 2011 ([2], and databases therein). Polymorphisms in the VEGF promoter that were originally associated with increased ALS risk have not been confirmed in subsequent studies but may act as modifiers of disease onset or progression in subsets of ALS cases [58].
Mendelian genes for heritable ALS (FALS)
Gene
Location
Heritance
Protein
Pathway or effect
ANG
14q11.2
Dominant
Angiogenin
rRNA transcription
ALS2
2q33
Recessive
Alsin
Endosome/membrane trafficking
C9ORF72
9p21.2
Dominant
Uncharacterized
Altered C9ORF72 RNA splicing, formation of nuclear RNA foci
FIG4
6q21
Recessive
FIG4 homolog
Endosomal trafficking
FUS
16p11.2
Both
Fused in sarcoma
Altered RNA processing, formation of inclusion bodies
OPTN
10p13
Both
Optineurin
Golgi maintenance, membrane trafficking and exocytosis, formation of inclusion bodies
SETX
9q34.12
Dominant
Senataxin
DNA and RNA processing
SOD1
21q22.11
Almost always
Superoxide dismutase-1
Protein aggregation, possible gains of redox function, impaired axonal transport
SPG11
15q21.2
Recessive
spatacsin
Impaired axonal transport
TARDPB
1p36.22
Dominant
TAR DNA binding
RNA processing, formation of protein inclusion bodies
UBQLN2
Xp11.231 dominant
X-linked
Ubiquilin-2
Proteosomal protein degradation, inclusion body formation