PMC6048271_01
Genetic evaluation. (A) Pedigrees of the investigated kindred. Proband (II:7), his affected sister (II:2) and healthy sibling (II:6) are indicated with an arrow; (B) mutation analysis of p.Asp31Asn (NP_003551.2), c.91G > A (NM_003560.2:) (rs150024227) in exon 2 of PLA2G6 gene (OMIM #603604). Sequence analysis is shown for proband (II:7), his affected sister (II:2), and healthy sibling (II:6); (C) MLPA analysis of PLA2G6 gene shows the results for proband (II:7), his affected sister (II:2) and healthy sibling (II:6).
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I:2, died, respectively at 85 and 91) and two siblings (II:3, 72 years old and II:6, 71 years old) did not show any neurological sign so far. In contrast, his 74 years old sister (II:2) was recently diagnosed with PD at the age 67 (Figure 1A). Sequencing Panels, Illumina) was performed. Sequence analysis identified the mutation p.Asp31Asn (NP_003551.2), c.91G>A (NM_003560.2:) (rs150024227) in PLA2G6 gene (OMIM #603604), confirmed by Sanger sequencing (Figure 1B). Multiple-ligation probe amplification (MLPA) (SALSA MLPA kit P120-B2, MRC-Holland) ruled out the presence of duplication or deletion as second mutation (Figure 1C).
DaTSCAN and Magnetic Resonance Imaging (1,5 Tesla). (A) DATSCAN image showing a reduced tracer uptake in both striatal regions; (B) magnetic resonance imaging. (I) T2 FLAIR shows post-central atrophy and bilateral temporo-insular atrophy; (II) SWAN shows a reduced thickness of the mesencephalic tagmen; (III) T1 FSPGR shows signs of iron deposition in the globus pallidum and in both putamen.
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Three years later a DAT-Scan was carried out, suggesting a marked asymmetric reduction of dopamine (DA) uptake sites within the right basal ganglia (Figure 2A). Brain MRI revealed post-central atrophy and bilateral temporo-insular atrophy (Figure 2B-I), along with a reduced thickness of the mesencephalic tegmentum (Figure 2B-II). There was no cerebellar atrophy, while in the basal ganglia brain iron accumulation was remarkable involving the head of the caudate nucleus, putamen and globus pallidus (Figure 2B-III).