Spastic paraplegia 6 information

Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific...

Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive...

been associated with the human genetic disease autosomal dominant spastic paraplegia 6. ENSG00000288478 GRCh38: Ensembl release 89: ENSG00000170113, ENSG00000288478...

partial or total loss of function in the arms, legs, trunk, and pelvis. (Paraplegia is similar but affects the thoracic, lumbar, and sacral segments of the...

disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the...

Tropical spastic paraparesis (TSP), is a medical condition that causes weakness, muscle spasms, and sensory disturbance by human T-lymphotropic virus...

Hereditary Spastic Paraplegia or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia...

1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease". Cell. 93 (6): 973–83...

cause the most frequent form of autosomal dominant spastic paraplegia 4 (SPG4). Spastic paraplegia Microtubule-associated protein GRCh38: Ensembl release...

dermal dysplasia type III Fontaine progeroid syndrome Hereditary spastic paraplegia 49 Intellectual disability, autosomal dominant 14, 42, and 52 KBG...

Spastic paraplegia 23 (SPG autosomal recessive) is a 25cM gene locus at 1q24-q32. A genome-wide linkage screen has associated this locus with a type of...

in this complex, are associated with SPG48, a type of hereditary spastic paraplegia. In addition, damaging variants in the genes encoding two proteins...

autosomal recessive spastic paraplegia 20 (Troyer syndrome). Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). HSP is...

dominant spastic paraplegia 10. KIF5A has been shown to interact with KLC1. Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type...

been associated with leukodystrophy dysmyelinating with hereditary spastic paraplegia type 35 (SPG35) with or without dystonia as well as fatty acid...

variants in this gene are associated with SPG48, a type of hereditary spastic paraplegia. GRCh38: Ensembl release 89: ENSG00000242802 – Ensembl, May 2017 GRCm38:...

also referred to as Parkinson disease 14 (PARK14), and hereditary spastic paraplegia. PLA2G6-associated neurodegeneration (PLAN) is a neurodegenerative...

1 (6q13) SOBP: sine oculis binding protein homolog (6q21) SPG25: spastic paraplegia 25 ST8: suppression of tumorigenicity 8 SYNJ2: synaptojanin 2 (6q25...

in this complex, are associated with SPG48, a type of hereditary spastic paraplegia. In addition, damaging variants in the genes encoding two proteins...

is indicative of ALS, and absence of family history for Hereditary Spastic Paraplegia (HSP) and ALS. Imaging studies to rule out structural or demyelinating...

state. Mutations of the SPG11 gene cause a rare form of spastic paraplegia, spastic paraplegia type 11. GRCh38: Ensembl release 89: ENSG00000104133 – Ensembl...

Spinal muscular atrophies Charcot–Marie–Tooth disease Hereditary spastic paraplegia Irobi, J; De Jonghe, P; Timmerman, V (2004). "Molecular genetics of...

Gomez-Lopez-Hernandez syndrome Hallermann-Streiff syndrome Hereditary spastic paraplegia Hirsutism-skeletal dysplasia-intellectual disability syndrome Holoprosencephaly...

membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. GRCh38: Ensembl release 89: ENSG00000072121 – Ensembl, May 2017...

functioning. Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia. GRCh38: Ensembl release 89: ENSG00000221838...