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Case Reports
. 2022 Sep 15;9(8):1116-1119.
doi: 10.1002/mdc3.13562. eCollection 2022 Nov.

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

Lara M Lange  1   2 , Nathalie Schell  1   3 , Sinem Tunc  1   2   4 , Moneef Shoukier  5 , Anne Weißbach  1   2   4 , Yorck Hellenbroich  6 , Norbert Brüggemann  1   2   7
Affiliations
Case Reports

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

Lara M Lange et al. Mov Disord Clin Pract. .
No abstract available

Keywords: CLN5 disease; genetic; imaging; neuronal ceroid lipofuscinosis; parkinsonism.

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Figures

FIG. 1
FIG. 1
Pedigree, DaTSCAN and MRI imaging of the index case. (A) Pedigree of the family. The index case (arrow) carried both CLN5 variants (mut1: C.486 + 4dupA and mut2: C.575A > G, p.Asn192Ser; NM 006493). The neurologically healthy mother carried one of these variants (mut1: C.486 + 4dupA). Other family members were not available for genetic testing.1 The sister suffered from multiple sclerosis and structural epilepsy.2 An uncle was reported to have suffered from the English disease. (B) MRI imaging reveals progressive total brain volume reduction and basal ganglia iron deposition, mostly pronounced in the parieto‐occipital region as well as progressive leukoencephalopathy. Wt, wildtype allele. (C) DaTSCAN of the index case (10/2020) shows an asymmetric reduction of presynaptic dopamine transporter density with a rostro‐caudal gradient.
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