Condition: Paraparesis, Spastic
rs672601368
in
KIF1A
gene and
Paraparesis, Spastic
PMID 26486474
2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1085307110
in
KY;CEP63;EPHB1
gene and
Paraparesis, Spastic
PMID 28488683
2017 Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
rs63750886
in
PSEN1
gene and
Paraparesis, Spastic
PMID 12493737
2003 Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
rs312262717
in
SPG11
gene and
Paraparesis, Spastic
PMID 19194956
2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.