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Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

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Presentation on theme: "Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal."— Presentation transcript:

1 Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia
Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia (A) Pedigree of the family showing the segregation of the CHP1 p.K19del mutation (red M; “+” denotes the reference allele). (B) CHP1 next-generation sequencing reads show the homozygous NM_007236:c.52_54del: p.K19del variant for individuals IV-6 and IV-8. Sanger sequencing pherograms show homozygosity for the 3-bp deletion in both patients and heterozygosity in both parents; the unaffected sibling IV-7 shows the homozygous reference sequence. (C) Brain MRI of proband of individual IV-8 at 22 years of age. Sagittal (left panel) and coronal (middle panel) sections of T1-weighted images are shown. Hypoplasia of the posterior and nodular regions of the cerebellar vermis, but not of the hemispheres, is observed. An axial fluid-attenuated inversion recovery section (right panel) shows no evident white matter abnormalities. (D) Protein sequence alignment of CHP1 orthologs shows high conservation in the region including the K19del mutation (marked with asterisk). Gray indicates α-helical protein structure. Natalia Mendoza-Ferreira et al. Neurol Genet 2018;4:e209 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

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Figure 1 Regional changes in FA values

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Figure 1 Brain MRI findings in the present case

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Figure 2 Needle biopsy of the left vastus lateralis

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Figure 2 Spinal cord lesions

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