Hereditary spastic paraplegia type 39 (SPG39)
Evidence-based neurology checklist on hereditary spastic paraplegia type 39 (spg39): Genetics This is caused by mutations in the PNPLA6 gene on chromosome 19p The transmission is autosomal recessive Related gene disorders Clinical features Differential diagnosis Magnetic resonance imaging (MRI)…
Genetics
- This is caused by mutations in the PNPLA6 gene on chromosome 19p
- The transmission is autosomal recessive
Related gene disorders
Clinical features
Differential diagnosis
Magnetic resonance imaging (MRI) brain: features
Nerve conduction studies (NCS)
References
- Rainier S, Bui M, Mark E, et al. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 2008; 82:780-785.
- Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2014; 137:69-77.
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