Hereditary spastic paraplegia type 86 (SPG86)
Evidence-based neurology checklist on hereditary spastic paraplegia type 86 (spg86): Genetics This is caused by mutations in the ABHD16A gene The gene is on chromosome 6 The transmission is autosomal recessive Onset is in early childhood Dysmorphic features Neurological features Dermatological…
Genetics
- This is caused by mutations in the ABHD16A gene
- The gene is on chromosome 6
- The transmission is autosomal recessive
- Onset is in early childhood
Dysmorphic features
Neurological features
Dermatological features
Psychiatric features
Skeletal features
Magnetic resonance imaging (MRI) brain
References
- Yahia A, Elsayed LEO, Valter R, et al. Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia. Front Neurol 2021; 12:720201.
- Lemire G, Ito YA, Marshall AE, et al. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. Am J Hum Genet 2021; 108:2017-2023.
- Miyake N, Silva S, Troncoso M, et al. A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. Clin Genet 2022; 101:359-363.
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