autosomal dominant striatal neurodegeneration type 1

Autosomal dominant striatal neurodegeneration type 1 is a neurological condition that primarily affects movement due to dysfunction in the striatal part of the basal ganglia. The condition is linked to pathogenic variants in the PDE8B gene, which plays a role in cellular signaling within the brain. Although precise prevalence data are not well established, this condition is recognized as an inherited disorder that can run in families. Individuals may experience symptoms at various stages of life, and the clinical presentation shows variability in severity.

The clinical presentation is defined by a set of characteristic movement abnormalities. Nearly all affected individuals exhibit features such as bradykinesia, dysarthria, rigidity, dysdiadochokinesis, slurred speech, and gait disturbance. In addition, imaging studies reveal degeneration of the striatum and a specific pattern on MRI characterized by symmetric T2-signal increase with T1-signal decrease in the putamen, along with brisk reflexes. Not all individuals experience every feature, and the severity and progression of symptoms can vary considerably.

The condition is caused by alterations in the PDE8B gene. The PDE8B protein is involved in cellular signaling processes and is critical for normal neuronal function in the striatum. Autosomal dominant inheritance means that a single copy of the altered gene is sufficient to cause the disorder. As with many genetic conditions, even within the same family the specific symptoms and their severity may vary, underscoring the role of variable expressivity.

Currently, management focuses on supportive care and symptom management, with treatment tailored to each individual. Although there are no treatments specifically approved for this condition, a multidisciplinary team—including neurologists and movement disorder specialists—can provide therapies aimed at improving quality of life. Patients are encouraged to engage in regular evaluations with their healthcare team, and genetic counseling is recommended to understand the implications for family members.

The course of autosomal dominant striatal neurodegeneration type 1 can vary widely between individuals, with outcomes that depend on symptom severity, age of diagnosis, and access to specialized care. While some patients experience a gradual progression of motor difficulties over time, others may have a more stable course for long periods. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with neurologists and genetic counselors to gain a better understanding of this condition and to discuss ongoing management options.