What is the definition of Spinocerebellar Ataxia Type 15?
Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.
What are the alternative names for Spinocerebellar Ataxia Type 15?
- Spinocerebellar ataxia type 15
- SCA16 (formerly)
- Spinocerebellar ataxia 16 (formerly)
What are the symptoms for Spinocerebellar Ataxia Type 15?
Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms.