Publications by authors named "P D Shanmugarajah"
Can CANVAS due to biallelic expansions present with pure ataxia?
J Neurol Neurosurg Psychiatry
January 2024
Background: Biallelic expansion of AAGGG in the replication factor complex subunit 1 () was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, or SG) and vestibular areflexia syndrome (CANVAS). We wanted to clarify if expansions can present with pure ataxia and if such expansions could be responsible for some cases where an alternative diagnosis had been made.
Methods: We identified patients with a combination of ataxia and SG and no other cause found, patients where an alternative diagnosis had been made, and patients with pure ataxia.
: Cataract is a disease that is globally prevalent in today's population and occurs mostly in the elderly. It is an opacity of the lens that worsens vision and can lead to blindness. One well-known risk factor of cataract is ultraviolet (UV) radiation.
View Article and Find Full Text PDFArticle Synopsis
- Vasculitis and autoimmune conditions can occur as complications from TNF-α inhibitors, leading to varied presentations, including isolated vasculitic neuropathy.
- Diagnosing vasculitic neuropathy is challenging due to the limited sensitivity of peripheral nerve biopsies, making thorough patient history and clinical suspicion essential.
- The text discusses a specific case of sensory vasculitic neuropathy induced by adalimumab, highlighting the treatment approach based on guidelines for non-systemic vasculitic neuropathy.
Purpose: The purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants.
Methods: Patients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) as part of the National Institute for Health Research BioResource rare-disease and the UK's 100,000 Genomes Project (100KGP) with an additional case identified by exome sequencing. Retrospective clinical data were collected from the medical records.