Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2022 Nov 7

PMID 36339300

Authors

Lara M Lange

Nathalie Schell

Sinem Tunc

Moneef Shoukier

Anne Weissbach

Yorck Hellenbroich

Norbert Bruggemann

Affiliations

Soon will be listed here.

Citing Articles

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Madhavi K, Kandadai R, Kola S, Borgohain R, Alugolu R, Prasad V Tremor Other Hyperkinet Mov (N Y). 2024; 14:54.

PMID: 39525553 PMC: 11545912. DOI: 10.5334/tohm.941.

I-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.

Quintas S, Sanles-Falagan R, Berbis M Mov Disord Clin Pract. 2024; 11(6):613-625.

PMID: 38693679 PMC: 11145110. DOI: 10.1002/mdc3.14055.

References

Cherian A, K P D, Paramasivan N, Krishnan S . Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to Mutation. Neurology. 2021; 96(21):e2662-e2665. DOI: 10.1212/WNL.0000000000011997. View

Nijssen P, Brusse E, Leyten A, Martin J, Teepen J, Roos R . Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov Disord. 2002; 17(3):482-7. DOI: 10.1002/mds.10104. View

Adams J, Feuerborn M, Molina J, Wilden A, Adhikari B, Budden T . Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease. Sci Rep. 2019; 9(1):151. PMC: 6336884. DOI: 10.1038/s41598-018-36379-z. View

Jalanko A, Braulke T . Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2008; 1793(4):697-709. DOI: 10.1016/j.bbamcr.2008.11.004. View

Mukherjee A, Appu A, Sadhukhan T, Casey S, Mondal A, Zhang Z . Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. Mol Neurodegener. 2019; 14(1):4. PMC: 6335712. DOI: 10.1186/s13024-018-0300-6. View

Williams R, Mole S . New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012; 79(2):183-91. DOI: 10.1212/WNL.0b013e31825f0547. View

Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T . Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain. 2017; 140(2):287-305. PMC: 5278306. DOI: 10.1093/brain/aww307. View

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A . Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. J Neurol. 2014; 262(1):173-8. DOI: 10.1007/s00415-014-7553-y. View

Bras J, Verloes A, Schneider S, Mole S, Guerreiro R . Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 2012; 21(12):2646-50. PMC: 3363329. DOI: 10.1093/hmg/dds089. View

10.

Le N, Parikh S . Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency. J Child Neurol. 2011; 27(2):234-7. DOI: 10.1177/0883073811419261. View

11.

Berkovic S, Staropoli J, Carpenter S, Oliver K, Kmoch S, Anderson G . Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology. 2016; 87(6):579-84. PMC: 4977374. DOI: 10.1212/WNL.0000000000002943. View