Condition: Spastic Paraplegia
rs754944359 in
AP4S1 gene and
Spastic Paraplegia
PMID 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
rs116171274 in
CYP7B1 gene and
Spastic Paraplegia
PMID 19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
PMID 21541746 2012 Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
PMID 24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
PMID 24519355 2014 Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
PMID 21214876 2012 Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
PMID 18252231 2008 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
PMID 9802883 1998 Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
PMID 19812052 2010 Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.
PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
rs1553262438 in
GJC2 gene and
Spastic Paraplegia
PMID 20513814 2010 Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
PMID 18094336 2008 GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
PMID 20695017 2010 Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
PMID 21959080 2011 Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
PMID 23142375 2013 Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
PMID 21246605 2012 Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
rs1569285562 in
KDM5C gene and
Spastic Paraplegia
PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
PMID 22326837 2012 A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
rs797045050 in
KIF1A gene and
Spastic Paraplegia
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs1555177629 in
KIF5A gene and
Spastic Paraplegia
PMID 21623771 2012 Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
PMID 18853458 2009 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
PMID 26543653 2015 Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).
PMID 25008398 2014 Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
rs1085307110 in
KY;CEP63;EPHB1 gene and
Spastic Paraplegia
PMID 28488683 2017 Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
rs137852520 in
L1CAM gene and
Spastic Paraplegia
PMID 10469653 1999 Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
PMID 11772994 2002 Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
PMID 7920659 1994 X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
PMID 19846429 2010 Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
PMID 8069317 1994 Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
PMID 10797421 2000 Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
PMID 11438988 2001 Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
rs1160357920 in
SACS gene and
Spastic Paraplegia
PMID 23250129 2013 Diversity of ARSACS mutations in French-Canadians.
PMID 19892370 2010 Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.
PMID 21745802 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PMID 10655055 2000 ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
rs771551765 in
TMEM67 gene and
Spastic Paraplegia
PMID 10567047 1999 Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
PMID 27457812 2017 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
rs370828455 in
ZFYVE26 gene and
Spastic Paraplegia
PMID 6944241 1981 [Koryak of Kamchatka. The genetic differentiation of the population].
PMID 27544497 2016 Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.
PMID 18394578 2008 Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
PMID 19805727 2009 SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.