Hereditary spastic paraplegia type 44 (SPG44)

Genetics

• This is caused by mutations in the GJC2 gene on chromosome 1q
• The transmission is autosomal recessive

Related gap junction disorders

Spasticity features

Cerebral features

Cerebellar features

Skeletal features

Autonomic features

Other features

Magnetic resonance imaging (MRI) brain: features

Motor evoked potentials (MEPs)

References

1. Orthmann-Murphy JL, Salsano E, Abrams CK, et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 2009; 132:426-438.
2. Abrams CK, Scherer SS. Gap junctions in inherited human disorders of the central nervous system. Biochim Biophys Acta 2012; 1818:2030-2047. 
3. And 0 more. Subscribe to see the full list

Related checklists

• Hereditary spastic paraplegia type 26 (SPG26)
• Hereditary spastic paraplegia type 27 (SPG27)
• Hereditary spastic paraplegia type 28 (SPG28)
• Hereditary spastic paraplegia type 29 (SPG29)
• Hereditary spastic paraplegia type 30 (SPG30)
• Hereditary spastic paraplegia type 31 (SPG31)
• Hereditary spastic paraplegia type 32 (SPG32)
• Hereditary spastic paraplegia type 33 (SPG33)
• Hereditary spastic paraplegia type 34 (SPG34)
• Hereditary spastic paraplegia type 35 (SPG35)
• Hereditary spastic paraplegia type 36 (SPG36)
• Hereditary spastic paraplegia type 37 (SPG37)
• Hereditary spastic paraplegia type 38 (SPG38)
• Hereditary spastic paraplegia type 39 (SPG39)
• Hereditary spastic paraplegia type 40 (SPG40)
• Hereditary spastic paraplegia type 41 (SPG41)
• Hereditary spastic paraplegia type 42 (SPG42)
• Hereditary spastic paraplegia type 43 (SPG43)
• Hereditary spastic paraplegia type 45 (SPG45)
• Hereditary spastic paraplegia type 46 (SPG46)
• Hereditary spastic paraplegia type 47 (SPG47)
• Hereditary spastic paraplegia type 48 (SPG48)
• Hereditary spastic paraplegia type 49 (SPG49)
• Hereditary spastic paraplegia type 50 (SPG50)