Autosomal dominant striatal neurodegeneration

Autosomal dominant striatal neurodegeneration (also known as autosomal dominant striatal degeneration or familial striatal necrosis, autosomal dominant type) is a rare inherited neurodegenerative disorder characterized by progressive degeneration of the striatum, which includes the caudate nucleus and putamen — key structures of the basal ganglia in the brain. This condition has been linked to mutations in the PDE8B gene (phosphodiesterase 8B) on chromosome 5q13, and it primarily affects the central nervous system, specifically the motor control pathways. Clinical features typically manifest in adulthood and include progressive movement abnormalities such as dystonia, choreoathetosis, bradykinesia, and rigidity. Patients may also develop dysarthria (difficulty with speech), dysphagia (difficulty swallowing), and spasticity. Brain MRI characteristically shows bilateral striatal atrophy or necrosis. The severity and progression of symptoms can vary among affected individuals, even within the same family. There is currently no curative treatment for autosomal dominant striatal neurodegeneration. Management is symptomatic and supportive, focusing on alleviating movement disorder symptoms with medications such as dopaminergic agents, anticholinergics, or muscle relaxants. Physical therapy, speech therapy, and occupational therapy may help maintain function and quality of life. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern, meaning each child of an affected individual has a 50% chance of inheriting the causative mutation.

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