Details of Disease

General Information of Disease (ID: DIS6KYWB)

• Disease Name: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
• Synonyms: spastic paraplegia 79, autosomal recessive; SPG79; neurodegeneration with optic atrophy, childhood-onset; NDGOA
• Definition: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DIS6KYWB: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014209
  UMLS CUI: C3809665
  OMIM ID: 615491
  MedGen ID: 815995
  Orphanet ID: 352654

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
UCHL1	OTTCHLRJ	Strong	Autosomal recessive	[1]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UCHL1	TTX9IFP	Limited	Genetic Variation	[2]
UCHL1	TTX9IFP	Strong	Autosomal recessive	[1]

References

• [1] Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28.
• [2] Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.J Hum Genet. 2018 Aug;63(8):927-933. doi: 10.1038/s10038-018-0463-6. Epub 2018 May 7.