Evaluation of Cerebrospinal Fluid α-Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome.

Background: Seed amplification assay (SAA) testing has been developed as a biomarker for the diagnosis of α-synuclein-related neurodegenerative disorders.

Objective: The objective of this study was to assess the rate of α-synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) and to analyze clinical and pathological features of SAA-positive and -negative cases.

Methods: A total of 96 cerebrospinal fluid samples from clinically diagnosed PSP (n = 59) and CBS (n = 37) cases were analyzed using α-synuclein SAA.

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.

Posterior column ataxia with retinitis pigmentosa (PCARP) is a rare autosomal recessive condition due to variants in the Feline Leukemia Virus Subgroup C Cellular Receptor 1 (FLVCR1) gene which was first described in 1997. In this article, we describe a young female patient with a childhood diagnosis of retinitis pigmentosa and learning disability, presenting with progressive ataxia from her late teens. Examination revealed spastic lower limbs with absent reflexes, and reduced vibration and joint position sensation.