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 -