Sudomotor dysfunction in patients with gluten neuropathy.

BACKGROUND AND AIM: Gluten neuropathy (GN) is a common neurological manifestation of gluten sensitivity (GS), characterized by serological evidence of GS, while other risk factors for developing neuropathy are absent. The degree of small fiber dysfunction in GN has not been studied in depth to date. Small fiber involvement may lead to pain, thermal perception abnormalities, and sweat gland dysfunction. Sudomotor innervation refers to the cholinergic innervation of the sympathetic nervous system through small fibers in the sweat glands. The aim of our study was to assess the sudomotor function of GN patients. METHODS: Patients with GN were recruited. Clinical and neurophysiological data were obtained. HLA-DQ genotyping was performed. The skin electrochemical conductance (ESC) was measured with SUDOSCANTM. RESULTS: Thirty-two patients (25 males, mean age 69.5±10.2 years) were recruited. Thirteen patients (40.6%) had abnormal sudomotor function of the hands. Sixteen patients (50%) had abnormal sudomotor function of the feet. Twenty-one patients (65.6%) had abnormal sudomotor function of either the hands or feet. Sudomotor dysfunction did not correlate with the type of neuropathy (length-dependent neuropathy or sensory ganglionopathy), gluten-free diet adherence, severity of neuropathy, and duration of disease or HLA-DQ genotype. No differences in the ESC were found between patients with painful and patients with painless GN. CONCLUSION: Sudomotor dysfunction affects two-thirds of patients with GN. The lack of correlation between pain and sudomotor dysfunction suggests different patterns of small fiber involvement in patients with GN.

Neurological Dysfunction in Coeliac Disease and Non-Coeliac Gluten Sensitivity.

OBJECTIVES: Non-coeliac gluten sensitivity (NCGS) refers to patients with primarily gastrointestinal symptoms without enteropathy that symptomatically benefit from gluten-free diet (GFD). Little is known about its pathophysiology, propensity to neurological manifestations, and if these differ from patients with coeliac disease (CD). We investigated the clinical and immunological characteristics of patients presenting with neurological manifestations with CD and those with NCGS. METHODS: We compared clinical, neurophysiological, and imaging data of patients with CD and NCGS presenting with neurological dysfunction assessed and followed up regularly over a period of 20 years. RESULTS: Out of 700 patients, 562 were included. Exclusion criteria included no bowel biopsy to confirm CD, no HLA type available, and failure to adhere to GFD. All patients presented with neurological dysfunction and had circulating anti-gliadin antibodies. Out of 562 patients, 228 (41%) had evidence of enteropathy (Group 1, CD) and 334 (59%) did not (Group 2, NCGS). The most common neurological manifestations were cerebellar ataxia, peripheral neuropathy, and encephalopathy. There was a greater proportion of patients with encephalopathy in Group 1 and with a greater proportion of neuropathy in Group 2. The severity of ataxia did not differ between the two groups. Patients in Group 1 had more severe neuropathy. All patients from both groups responded to gluten-free diet. Anti-tissue transglutaminase (TG2) antibodies were found in 91% of patients in Group 1 and in 29% of patients in Group 2. Comparison between those patients in Group 2 with HLA-DQ2/DQ8 and those without as well as those with positive TG2 compared with those with negative TG2 antibodies identified no differences within these subgroups. Serological positivity for TG6 antibodies was similar in the two groups (67 and 60%). CONCLUSIONS: The neurological manifestations of CD and NCGS are similar and equally responsive to a GFD suggestive of common pathophysiological mechanisms.

Sensory Ganglionopathy and the Blink Reflex: Electrophysiological Features.

BACKGROUND: Sensory ganglionopathy (SG) is characterised by asymmetrical sensory fibre degeneration, with the primary pathology occurring at the level of the dorsal root ganglion. It is seen in the context of autoimmune, paraneoplastic, and degenerative disorders. There is limited literature examining the electrophysiological correlate of the trigeminal ganglion and associated pathways, the blink reflex (BR), in cases of SG. Previous work has suggested that the BR is preserved in cases of SG associated with paraneoplasia. METHODS: The local clinical neurophysiology database was searched for patients diagnosed with SG from peripheral nerve conduction studies in whom the BR was performed. Twenty-six patients were included in the final analysis. RESULTS: Sjögren's syndrome constituted the most common SG aetiology (8/26), followed by idiopathic cases (7/26) and paraneoplasia (5/26). BR abnormalities were seen in 9 of the 26 patients (34.6%) across all aetiologies. No patients reported sensory disturbance in the distribution of the trigeminal nerve, indicating that the changes noted are subclinical. Three patients showed abnormality of the R1 response; in the remaining six patients, only R2 responses were affected. CONCLUSIONS: Subclinical abnormalities of both R1 and R2 can be seen in the context of SG of varying aetiologies, including paraneoplasia. Performing the BR in patients with suspected of having SG may be helpful in providing additional evidence of patchy sensory fibre involvement that is characteristic of the disease.

Upper limb entrapment neuropathies in multiple sclerosis.

INTRODUCTION: Entrapment neuropathies of upper limbs such as carpal tunnel and cubital tunnel syndromes are common in the general population. Identification of entrapment neuropathies of upper limbs in patients with multiple sclerosis can be clinically challenging as signs and symptoms could be attributed to multiple sclerosis. People at later stages of multiple sclerosis use mobility aids and wheelchairs. Weakness of hands in this cohort due to entrapment neuropathies could adversely affect their mobility and independence. METHODS: This was a retrospective review of records of patients with multiple sclerosis referred for clinical neurophysiological studies with clinical suspicion of upper limb entrapment neuropathies over a 10-year period. We collected demographic details, clinical features, clinical neurophysiological data and details of aids and appliances used for mobility. RESULTS: Among 71 patients, 38 (53.5%) patients had at least one entrapment neuropathy of upper limb confirmed by clinical neurophysiological studies. Twelve (31%) patients had median nerve entrapment, 20 (53%) had ulnar nerve entrapment and six (16%) had both. Risk of ulnar nerve entrapment was significantly higher in patients using a powered wheelchair (odds ratio 5.7, 95% confidence interval (1.7-18.7, p = 0.0037). DISCUSSION: Entrapment neuropathies should be considered in patients with multiple sclerosis reporting sensory and motor symptoms of hands.

Chronic idiopathic axonal polyneuropathy: Prevalence of pain and impact on quality of life.

BACKGROUND AND AIM: Chronic idiopathic axonal polyneuropathy (CIAP) is a term describing axonal neuropathies of insidious onset, with slow or no progression of the disease over at least 6 months and with no etiology being identified despite appropriate investigations. We aimed to establish the prevalence of pain in patients with CIAP and investigate the impact of pain on quality of life (QoL). METHODS: All consecutive patients with CIAP attending a specialist neuropathy clinic were invited to participate. Pain was assessed via the DN4 questionnaire and the visual analogue scale (VAS). Overall Neuropathy Limitations Scale (ONLS) was used to assess the severity of neuropathy. The SF-36 questionnaire was used to measure participants' quality of life. RESULTS: Fifty-five patients with CIAP were recruited (63.6% male, mean age 73.4 ± 8.7 years). Based on the DN4 questionnaire, peripheral neuropathic pain was present in 33 patients (60.0%). After having adjusted for age, gender and disease severity pain showed significant negative correlations with the energy/fatigue domain of QoL (ß = -0.259, p = 0.049), with the emotional well-being domain (ß = -0.368, p = 0.007) and the general health perception domain (ß = -0.356, p = 0.007). CONCLUSION: Pain is very prevalent in CIAP and is associated with poorer emotional well-being, worse general health perception, and increased fatigue.