FIGURE

Figure 1

ID

ZDB-FIG-220324-16

Publication

Corral-Juan et al., 2022 - New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

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Figure 1

Pedigree, MRI and SARA scale from M-SCA patients. (A) Pedigree of the five-generation family from the Balearic island of Menorca with 11 affected individuals. Black asterisks denote individuals included in genome-wide linkage studies; red asterisks denote individuals studied by WES. (B–E) Sagittal and transverse T₁-weighted MRI scans of Patient V:1 brain revealing cerebellar atrophy (B), and initial signs of focal brain demyelination lesions noted by red arrows (C). Imaging of the brain of the father of patient V:1 (IV:2) also showed severe cerebellar vermis atrophy (D), and marked cerebral demyelination noted by red arrows (E) compared with age- and gender-matched controls (Supplementary Fig. 3). (F) SARA clinical scale of six affected patients showing variable severity and progression of the disease following an exponential pattern (r_s₍₄₎ = 0.92, P = 0.008).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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