PMC5473401_01
Genetic imaging data.. (
A) Pedigree and inheritance of the variants in
TBC1D24, p.Pro135Leu; c.404C>T in exon 2 and p.Arg360Cys; c.1078C>T in exon 4 (NM_001199107.1). (
B) Amino acid sequence alignment of both variants between species demonstrating that both amino acids are conserved between species. (
C) T1-weighted sagittal MRI scan of brain, illustrating mild cerebellar atrophy affecting the superior vermis. (
D) T2-weighted axial MRI scan of the brain showing mild atrophy of the hemispheres. (
E) T1-weighted coronal MRI scan of the brain showing mild atrophy of the hemispheres.
f1000research-6-11410-g0000.jpg
PMC5473401_02_f1000research-6-11410-g0000.jpg
f1
A magnetic resonance imaging (MRI) test in 2014 showed mild cerebellar atrophy in the superior cerebellar vermis and the cerebellar hemispheres ( Figure 1C-D), and an overnight video EEG showed diffuse mild background slowing consistent with mild cerebral dysfunction, but no epileptiform activity was observed during the test. The patient's family history ( Figure 1A) is notable in that the mother (I:2) experienced general tonic-clonic seizures before the age of 5, but was not treated with anticonvulsants.
PMC5473401_02
Genetic imaging data.. (
A) Pedigree and inheritance of the variants in
TBC1D24, p.Pro135Leu; c.404C>T in exon 2 and p.Arg360Cys; c.1078C>T in exon 4 (NM_001199107.1). (
B) Amino acid sequence alignment of both variants between species demonstrating that both amino acids are conserved between species. (
C) T1-weighted sagittal MRI scan of brain, illustrating mild cerebellar atrophy affecting the superior vermis. (
D) T2-weighted axial MRI scan of the brain showing mild atrophy of the hemispheres. (
E) T1-weighted coronal MRI scan of the brain showing mild atrophy of the hemispheres.
f1000research-6-11410-g0000.jpg
PMC5473401_02_f1000research-6-11410-g0000.jpg
f1
A magnetic resonance imaging (MRI) test in 2014 showed mild cerebellar atrophy in the superior cerebellar vermis and the cerebellar hemispheres ( Figure 1C-D), and an overnight video EEG showed diffuse mild background slowing consistent with mild cerebral dysfunction, but no epileptiform activity was observed during the test. The patient's family history ( Figure 1A) is notable in that the mother (I:2) experienced general tonic-clonic seizures before the age of 5, but was not treated with anticonvulsants.