PNPLA6-related spastic paraplegia with or without ataxia

PNPLA6-related spastic paraplegia with or without ataxia is a multisystem condition that is inherited in an autosomal recessive manner. This means that a person needs to inherit two copies of the mutated gene to have the condition. The disorder is caused by pathogenic variants in the PNPLA6 gene. People with this condition may experience a range of issues such as problems with movement, muscle weakness, and changes in cognitive function. The condition is described as affecting the peripheral nerves and may also involve signs like lower limb spasticity, reduced vibration sense, and sometimes cerebellar ataxia, where balance and coordination are affected.

Common signs seen in those with PNPLA6-related spastic paraplegia include peripheral neuropathy, lower limb spasticity, muscle weakness, and reduced vibration sense. Some people may also experience cognitive impairment and problems with balance and coordination (cerebellar ataxia).

This condition is caused by mutations in the PNPLA6 gene. It follows an autosomal recessive inheritance pattern, meaning that two copies of the disease-causing gene variant are needed for the condition to develop. This genetic cause contributes to the range of symptoms experienced by people with the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.