Hereditary spastic paraplegia type 86 (SPG86)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 86 (SPG86). This is caused by mutations in the ABHD16A gene. Fully referenced neurology checklist.

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

Locked: subscribe to see this section.

Neurological features

Locked: subscribe to see this section.

Dermatological features

Locked: subscribe to see this section.

Psychiatric features

Locked: subscribe to see this section.

Skeletal features

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain

Locked: subscribe to see this section.

References

  1. 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.
  2. 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.
  3. 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.

Related checklists

Loading...