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Fig. 1 | Human Genomics

Fig. 1

From: Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Fig. 1

a Pedigree drawing of the five-generation family of Italian descent. Square symbols denote male and circles indicate female individuals. The filled circle in the fourth generation that is also highlighted with an arrow indicates the index case (MA80) that was exome sequenced. b Brain magnetic resonance imaging (MRI) analysis showing T1-weighted images of the sagittal and c axial representations of patient MA80, showing mild cortical, cerebellar, and vermian atrophy. d 123I-Ioflupane single-photon emission computerized tomography (SPECT) scan image of the basal ganglia, showing bilateral reduction in putamen uptake, associated with widespread non-specific cortical uptake

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Human Genomics

ISSN: 1479-7364