autosomal recessive early-onset Parkinson disease 23

Autosomal recessive early-onset Parkinson disease 23 is a neurodegenerative condition caused by mutations in the VPS13C gene that disrupt normal neuronal function. It typically manifests in younger individuals with early onset of Parkinsonian features and progressive cognitive decline. Although precise prevalence data are not available, this condition is considered extremely rare. Early identification is important to help guide supportive care and family planning decisions.

Affected individuals commonly present with core neurological signs, including a resting tremor, dementia, parkinsonism with a favorable response to dopaminergic medications, Lewy bodies, neurofibrillary tangles, slurred speech, mental deterioration, loss of ambulation, akinesia, and rigidity. As the disease progresses, some individuals also experience variable features such as urinary incontinence, spasticity, cachexia, depression, hallucinations, apathy, abnormal autonomic nervous system physiology, hyperreflexia, postural instability, dysphagia, confusion, limb dystonia, abnormal pyramidal signs, and falls. Not all individuals experience every feature, and severity varies considerably.

Autosomal recessive early-onset Parkinson disease 23 is caused by pathogenic variants in the VPS13C gene. The VPS13C protein is thought to be important for maintaining normal neuronal function, and disruptions in this gene can lead to the characteristic neurodegenerative changes seen in affected individuals. This condition is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene—one from each parent—to be affected. Genetic counseling is recommended for families to discuss recurrence risks and options for family planning.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for autosomal recessive early-onset Parkinson disease 23. Care is tailored to the individual and typically involves a multidisciplinary team to address motor symptoms, cognitive challenges, and other complications. Regular surveillance is an essential part of long-term care, helping to identify potential complications early through ongoing monitoring by specialists. Patients should discuss treatment options with their healthcare team and consider genetic counseling for further guidance.

The disease course of autosomal recessive early-onset Parkinson disease 23 is highly variable, with some individuals experiencing a more rapid progression of symptoms while others may have periods of relative stability. Outcomes depend on a range of factors, including the age at diagnosis, symptom severity, and access to specialized care, and modern supportive strategies have helped improve quality of life for many. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to seek guidance from genetic counselors as part of ongoing care planning.