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Clinical and electrophysiological characteristics of 103 patients with sensory neuronopathy

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Clinical and electrophysiological characteristics of 103 patients with sensory neuronopathy. / Lavin, T.; Al-Bachari, Sarah.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 86, No. 11, 14.10.2015, p. e4.

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Lavin, T. ; Al-Bachari, Sarah. / Clinical and electrophysiological characteristics of 103 patients with sensory neuronopathy. In: Journal of Neurology, Neurosurgery and Psychiatry. 2015 ; Vol. 86, No. 11. pp. e4.

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@article{ae872dc084474a0cb8e9dd8902263e5a,
title = "Clinical and electrophysiological characteristics of 103 patients with sensory neuronopathy",
abstract = "Sensory Neuronopathy (SN) represents a distinct peripheral nervous system disorder associated with degeneration of the Dorsal Root Ganglia. We present our retrospective review of 103 patients with an electro-clinical diagnosis of SN. Average age of onset was 54 yr. Aetiologies included Sjogrens (21%), Probable Inflammatory (16%), Idiopathic (29%), Inherited (20%), Toxic (5%) and paraneoplastic (9%). Of those with inherited SN (n=21); CANVAS syndrome 2/21, mitochrondrial cytopathy 9/21 with 4 confirmed POLG1 mutations, 3/21 presumed HSANIIb, Frederich's Ataxia 1/21 and 6/21 unidentified phenotypes. Clinically, acquired causes commonly presented with pain (62%), asymmetrical/non-length dependent sensory disturbance (91%) as compared to the inherited group who are more likely to present with gait disturbance without prominent sensory symptoms (52%). Of the cohort with presumed inflammatory disease, 29 patients were immunosuppressed with 12 patients responding to a combination of steroids and Mycophenolate. IVIG was not found to be beneficial with no sustained benefit in 7 patients. Paraneoplastic causes (n=9) included Breast (n=2), Neuroendocrine tumours (n=2), Carcinoid (n=2), Bowel (n=1), SCLC (n=1) and unknown primary (n=1) with only 4 Hu positive Conclusions Sensory neuronopathy is clinically and aetiologically pleomorphic. In cases with a suspected inflammatory cause it is worthwhile considering a trial of immunomodulatory treatment.",
keywords = "*human, *neurologist, *patient, breast, cancer of unknown primary site, carcinoid, degeneration, diagnosis, etiology, gait, inflammatory disease, intestine, mutation, mycophenolic acid, neuroendocrine tumor, neurologic disease, onset age, pain, peripheral nervous system, phenotype, spinal ganglion, steroid",
author = "T. Lavin and Sarah Al-Bachari",
year = "2015",
month = oct
day = "14",
doi = "10.1136/jnnp-2015-312379.144",
language = "English",
volume = "86",
pages = "e4",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
issn = "0022-3050",
publisher = "BMJ Publishing Group",
number = "11",

}

RIS

TY - JOUR

T1 - Clinical and electrophysiological characteristics of 103 patients with sensory neuronopathy

AU - Lavin, T.

AU - Al-Bachari, Sarah

PY - 2015/10/14

Y1 - 2015/10/14

N2 - Sensory Neuronopathy (SN) represents a distinct peripheral nervous system disorder associated with degeneration of the Dorsal Root Ganglia. We present our retrospective review of 103 patients with an electro-clinical diagnosis of SN. Average age of onset was 54 yr. Aetiologies included Sjogrens (21%), Probable Inflammatory (16%), Idiopathic (29%), Inherited (20%), Toxic (5%) and paraneoplastic (9%). Of those with inherited SN (n=21); CANVAS syndrome 2/21, mitochrondrial cytopathy 9/21 with 4 confirmed POLG1 mutations, 3/21 presumed HSANIIb, Frederich's Ataxia 1/21 and 6/21 unidentified phenotypes. Clinically, acquired causes commonly presented with pain (62%), asymmetrical/non-length dependent sensory disturbance (91%) as compared to the inherited group who are more likely to present with gait disturbance without prominent sensory symptoms (52%). Of the cohort with presumed inflammatory disease, 29 patients were immunosuppressed with 12 patients responding to a combination of steroids and Mycophenolate. IVIG was not found to be beneficial with no sustained benefit in 7 patients. Paraneoplastic causes (n=9) included Breast (n=2), Neuroendocrine tumours (n=2), Carcinoid (n=2), Bowel (n=1), SCLC (n=1) and unknown primary (n=1) with only 4 Hu positive Conclusions Sensory neuronopathy is clinically and aetiologically pleomorphic. In cases with a suspected inflammatory cause it is worthwhile considering a trial of immunomodulatory treatment.

AB - Sensory Neuronopathy (SN) represents a distinct peripheral nervous system disorder associated with degeneration of the Dorsal Root Ganglia. We present our retrospective review of 103 patients with an electro-clinical diagnosis of SN. Average age of onset was 54 yr. Aetiologies included Sjogrens (21%), Probable Inflammatory (16%), Idiopathic (29%), Inherited (20%), Toxic (5%) and paraneoplastic (9%). Of those with inherited SN (n=21); CANVAS syndrome 2/21, mitochrondrial cytopathy 9/21 with 4 confirmed POLG1 mutations, 3/21 presumed HSANIIb, Frederich's Ataxia 1/21 and 6/21 unidentified phenotypes. Clinically, acquired causes commonly presented with pain (62%), asymmetrical/non-length dependent sensory disturbance (91%) as compared to the inherited group who are more likely to present with gait disturbance without prominent sensory symptoms (52%). Of the cohort with presumed inflammatory disease, 29 patients were immunosuppressed with 12 patients responding to a combination of steroids and Mycophenolate. IVIG was not found to be beneficial with no sustained benefit in 7 patients. Paraneoplastic causes (n=9) included Breast (n=2), Neuroendocrine tumours (n=2), Carcinoid (n=2), Bowel (n=1), SCLC (n=1) and unknown primary (n=1) with only 4 Hu positive Conclusions Sensory neuronopathy is clinically and aetiologically pleomorphic. In cases with a suspected inflammatory cause it is worthwhile considering a trial of immunomodulatory treatment.

KW - human

KW - neurologist

KW - patient

KW - breast

KW - cancer of unknown primary site

KW - carcinoid

KW - degeneration

KW - diagnosis

KW - etiology

KW - gait

KW - inflammatory disease

KW - intestine

KW - mutation

KW - mycophenolic acid

KW - neuroendocrine tumor

KW - neurologic disease

KW - onset age

KW - pain

KW - peripheral nervous system

KW - phenotype

KW - spinal ganglion

KW - steroid

U2 - 10.1136/jnnp-2015-312379.144

DO - 10.1136/jnnp-2015-312379.144

M3 - Meeting abstract

VL - 86

SP - e4

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

IS - 11

ER -