1997 – Nelson J reported diffuse MRI abnormality in Cerebral and cerebellar atrophy with white matter changes suggested more diffuse disease. 1998 – Dollfus H reported a patient with a phenotype suggestive of a chromosomal abnormality. 2008 – Mariën P found limited cognitive deficit that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS). References
External links

Gillespie syndrome at MedlinePlus
Treatment
Preliminary experiments have examined the potential of drugs to act as pharmacological chaperones of DAT to rescue DTDS mutations. Bupropion and ibogaine appear to promote DAT maturation and functional activity by acting as pharmacological chaperones in the endoplasmic reticulum. These two drugs rescue DAT maturation and functional activity of two DTDS-associated mutations (A314V and R445C). Preclinical experiments in mice have demonstrated efficacy and safety of a potential treatment using stereotactic injection of AAV vector to deliver working  copies of the DAT gene. Support organizations
A variety of support and advocacy groups exist to connect with other patients and families or provide valuable services. International Parkinson and Movement Disorder Society
Parkinson & Movement Disorder Alliance
Parkinsons Foundation
Pediatric Neurotransmitter Disease Association


== References ==