Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play? View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12-22

AUTHORS

Panagiotis Zis, Ptolemaios Georgios Sarrigiannis, Dasappaiah Ganesh Rao, Nigel Hoggard, David Surendran Sanders, Marios Hadjivassiliou

ABSTRACT

Background and purposeCerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause.MethodsWe reviewed records of all patients that have been referred to the Sheffield Ataxia Centre who had neurophysiological and imaging data suggestive of SG and cerebellar ataxia respectively. We excluded patients with Friedreich’s ataxia, a common cause of this combination. All patients were screened for genetic causes and underwent extensive investigations.ResultsWe identified 40 patients (45% males, mean age at symptom onset 53.7 ± 14.7 years) with combined cerebellar ataxia and SG. The majority of patients (40%) were initially diagnosed with cerebellar dysfunction and 30% were initially diagnosed with SG. For 30% the two diagnoses were made at the same time. The mean latency between the two diagnoses was 6.5 ± 8.9 years (range 0–44). The commonest initial manifestation was unsteadiness (77.5%) followed by patchy sensory loss (17.5%) and peripheral neuropathic pain (5%).Nineteen patients (47.5%) had gluten sensitivity, of whom 3 patients (7.5%) had biopsy proven coeliac disease. Other abnormal immunological tests were present in another 15 patients. Six patients had malignancy, which was diagnosed within 5 years of the neurological symptoms. Only 3 patients (7.5%) were classified as having a truly idiopathic combination of cerebellar ataxia with SG.ConclusionOur case series highlights that amongst patients with the unusual combination of cerebellar ataxia and SG, immune pathogenesis plays a significant role. More... »

PAGES

20

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Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s40673-017-0079-1

DOI

http://dx.doi.org/10.1186/s40673-017-0079-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1099921446

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29299331


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