Motion and pattern cortical potentials in adults with high-functioning autism spectrum disorder

Purpose: Autism spectrum disorder (ASD) is a condition in which visual perception to both static and moving stimuli is altered. The aim of this study was to investigate the early cortical responses of subjects with ASD to simple patterns and moving radial rings using visual evoked potentials (VEPs). Methods: Male ASD participants (n = 9) and typically developing (TD) individuals (n = 7) were matched for full, performance and verbal IQ (p > 0.263). VEPs were recorded to the pattern reversing checks of 50′ side length presented with Michelson contrasts of 98 and 10 % and to the onset of motion—either expansion or contraction of low-contrast concentric rings (33.3 % duty cycle at 10 % contrast). Results: There were no significant differences between groups in the VEPs elicited by pattern reversal checkerboards of high (98 %) or low (10 %) contrast. The ASD group had a significantly larger N160 peak (1.85 x) amplitude to motion onset VEPs elicited by the expansion of radial rings (p = 0.001). No differences were evident in contraction VEP peak amplitudes nor in the latencies of the motion onset N160 peaks. There was no evidence of a response that could be associated with adaptation to the motion stimulus in the interstimulus interval following an expansion or contraction phase of the rings. Conclusion: These data support a difference in processing of motion onset stimuli in this adult high-functioning ASD group compared to the TD group

Inherited ataxia with slow saccades

Ataxia is a symptom of cerebellar dysfunction. Slowly progressive ataxia, dysarthria in an adult with a positive family history suggests an inherited cerebellar ataxia. We present an adult with gradually progressive ataxia and slow saccades. There was history of similar illness in his son. Genetic testing for spinocerebellar ataxia 2 was positive. We discuss the various inherited ataxias, causes of acute, progressive ataxia syndromes, episodic ataxias and ataxia associated with other neurological signs like peripheral neuropathy, pyramidal features, movement disorders and cognitive decline

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

Contains fulltext : 50306.pdf (publisher's version ) (Closed access)PURPOSE: To test human CRB1 heterozygotes for possible clinical or functional retinal changes and to evaluate whether a patient with Leber congenital amaurosis (LCA) with CRB1 mutations not consistent with previously described CRB1 phenotypes carried a modifier allele in another LCA gene. METHODS: Seven unrelated heterozygous carriers of CRB1 mutations underwent phenotyping by full eye examinations (indirect ophthalmoscopy and slit lamp biomicroscopy) and functional testing (standard full-field electroretinography [ERG] and multifocal ERG). For genotyping of the LCA patients and their parents, denaturing high-performance liquid chromatography (dHPLC) analyses were performed, followed by sequence analysis of CRB1, followed by sequence analysis of the AIPL1 and CRX genes to identify a putative modifier effect in a patient with an atypical CRB1 phenotype. RESULTS: Reduced full-field ERG b-wave amplitudes were observed with scotopic -2 dB flash (140 microV; P < 0.05), normal full-field cone ERGs, and significant regional retinal dysfunction on mfERG in five of seven carriers of CRB1 mutations. A known AIPL1 mutation (p. R302L) was identified as a potential modifier allele in a patient with LCA carrying two CRB1 mutations and with a prominent maculopathy. CONCLUSIONS: In human heterozygotes of CRB1 mutations (parents of offspring with LCA), distinctive regional retinal dysfunctions were found by multifocal ERG measurements that were consistent with the focal histologic abnormalities reported for the two CRB1 knockout mice models. This phenotypic finding may identify CRB1 carriers and point to the causal gene defect in affected LCA offspring, significantly facilitating the molecular diagnostic process. Evidence suggests a modifier allele in AIPL1 in a patient with LCA with prominent atrophic macular lesions and homozygous defects in CRB1