Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation

Neurology. 2021 May 25;96(21):e2662-e2665. doi: 10.1212/WNL.0000000000011997. Epub 2021 Apr 19.

Authors

Ajith Cherian¹, Divya K P², Naveen Kumar Paramasivan¹, Syam Krishnan¹

Affiliations

¹ From the Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Kerala, India.
² From the Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Kerala, India. [email protected].

PMID: 33875558
DOI: 10.1212/WNL.0000000000011997

No abstract available

MeSH terms

Adult
Cognitive Dysfunction / genetics
Consanguinity
Dopamine Agents / therapeutic use*
Female
Humans
Levodopa / therapeutic use*
Membrane Proteins / genetics*
Mutation, Missense
Neuronal Ceroid-Lipofuscinoses / drug therapy*
Neuronal Ceroid-Lipofuscinoses / genetics*

Substances

CLN6 protein, human
Dopamine Agents
Membrane Proteins
Levodopa