Details of Disease

General Information of Disease (ID: DIS38XRT)

• Disease Name: Hereditary spastic paraplegia 26
• Synonyms: spastic paraplegia 26, autosomal recessive; spastic paraplegia 26; hereditary spastic paraplegia type 26; autosomal recessive spastic paraplegia 26; SPG26; GM2 synthase deficiency; autosomal recessive spastic paraplegia type 26
• Definition: A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS38XRT: Hereditary spastic paraplegia 26
• Disease Identifiers:
  MONDO ID: MONDO_0012213
  MESH ID: C536862
  UMLS CUI: C1836632
  OMIM ID: 609195
  MedGen ID: 373138
  Orphanet ID: 101006
  SNOMED CT ID: 726607007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B4GALNT1	OTCY80HS	Strong	Autosomal recessive	[1]

References

• [1] Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006. Epub 2013 Jun 6.