Presentation is loading. Please wait.

Presentation is loading. Please wait.

Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2

Published byHilmar Endresen Modified over 5 years ago

Similar presentations

Presentation on theme: "Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2"— Presentation transcript:

1 Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2
Clinical and genetic features of a family with Ile371Lys SYT2 (A) Family pedigree reveals multiple affected family members supporting autosomal dominant inheritance. Filled symbols are clinically affected individuals, arrow denotes the proband. (B) Both the proband and her mother presented long-standing pes cavus and hammer toes. (C) Table summarizing electrophysiologic findings for the proband and her mother. Main findings were significant postexercise facilitation in compound muscle action potential amplitudes, significant decremental response to 3 Hz repetitive stimulation, and normal sural sensory responses. (D) Graph summary of the proband's repetitive stimulation study demonstrating both decremental response to 3 Hz repetitive stimulation and significant postexercise increment. (E) Sanger sequencing revealed a 1112T>A substitution in both the proband and her mother, resulting in an isoleucine (I) to lysine (K) change at residue 371. (F) This residue is highly conserved across species. ADM = abductor digiti minimi; amp = Amplitude; dCMAP = distal compound muscle action potential; N/A = not applicable; Rep. stim. = repetitive nerve stimulation; SNAP = sensory nerve action potential. Nataly I. Montes-Chinea et al. Neurol Genet 2018;4:e282 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Download ppt "Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2"

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Figure Pedigrees of the SCA42 families identified in this study
Figure EDSS, FS scores, and Modified MSFC scores

Figure EDSS, FS scores, and Modified MSFC scores
Figure 2 ERG amplitude reduction in the follow-up study

Figure 2 ERG amplitude reduction in the follow-up study
Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.
Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.
Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 3 Pedigree of familial idiopathic transverse myelitis
Figure 1 Box plot of the venous diameter in lesions

Figure 1 Box plot of the venous diameter in lesions
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure 2 Spinal cord lesions

Figure 2 Spinal cord lesions
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.
Figure Sural nerve electron microscopy

Figure Sural nerve electron microscopy
Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production

Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production
Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure Pedigree of the family

Figure Pedigree of the family
Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.
Figure 3 Molecular genetics

Figure 3 Molecular genetics
Figure 1 Clinical features and pedigree

Figure 1 Clinical features and pedigree

Similar presentations

Ads by Google