Upper gastrointestinal motility changes following spinal cord injury

Abstract  Spinal cord injury (SCI) is associated with severe autonomic dysfunction in both the acute and chronic phases. Upper gastrointestinal (GI) motor dysfunction has been previously reported in humans and rats. Gastric emptying (GE) of a solid meal – as measured by the [¹³C]-octanoic acid breath test – is delayed in the first 3 weeks after either spinal cord transection (SCT) or contusion (SCC) in rats. This is one of the main findings of a new paper by Qualls-Creekmore et al. in the current issue of this journal. Previous studies in rats only reported impairment of GE, intestinal and GI transit of liquid after SCI, but the authors observed that the delay of the GE of solid was more prominent after SCT than SCC. Recovery of the delay of GE of solid occurred at 6 weeks after SCC, but not after SCT. However, gastric motility changes persisted despite the functional normalization of the GE in rats with SCC. Bowel dysfunction is a major physical and psychological burden for SCI patients. Collaborative efforts, like the development of international standards to evaluate autonomic function after SCI will likely clarify the mechanisms of dysfunction and lead to the development of new therapeutic strategies.     

Autonomic dysfunction in ischemic stroke with carotid stenosis

Xiong L, Leung HW, Chen XY, Han JH, Leung WH, Soo OY, Lau YL, Wong KS. Autonomic dysfunction in ischemic stroke with carotid stenosis.
Acta Neurol Scand: 2012: 126: 122–128.
© 2011 John Wiley & Sons A/S. Objectives – Impaired autonomic function is common in acute ischemic stroke. Previous limited studies have suggested that atherosclerosis may affect the distensibility of the carotid sinus and then impair the cardiovascular autonomic function. This study sought to investigate cardiovascular autonomic function in patients with ischemic stroke with carotid stenosis. Methods – Eighty‐five patients with ischemic stroke (58 ones without carotid stenosis and 27 ones with carotid stenosis, average 6 months after stroke onset) and 37 elderly controls were recruited. All performed Ewing’s battery autonomic function tests. Results – From Ewing’s battery of autonomic function tests, atypical, definite, or severe autonomic dysfunction was identified in 69.0% patients without carotid stenosis and 88.9% with carotid stenosis, with significant difference between the two groups, and the prevalence of autonomic dysfunction in both groups was higher than that in controls (21.6%). Patients with carotid stenosis showed impairment of all parasympathetic tests (all P < 0.05) and one of the sympathetic tests [Mean fall in systolic blood pressure (BP) on standing: P = 0.051], and those without carotid stenosis only showed impairment in two parasympathetic tests (Valsalva ratio: P = 0.014; heart rate response to deep breathing: P < 0.001) in comparison with controls. Patients with carotid stenosis had significantly more impairment than those without carotid stenosis in some autonomic parameters (Valsalva ratio: P < 0.05; mean fall in systolic BP on standing: P < 0.05). Conclusions – Cardiovascular autonomic function is impaired in patients with ischemic stroke, but patients with carotid stenosis show more severely impaired parasympathetic and sympathetic functions.     

Colorectal transport during defecation in patients with lesions of the sacral spinal cord

Normal defecation involves reflexes between the colorectum and sacral spinal cord. Lesions of the conus medullaris or cauda equina interrupt such reflex arches and cause constipation. The aim of the study was to compare colorectal transport during defecation in patients with sacral spinal cord lesions and healthy volunteers. Ten patients with sacral spinal cord lesions (six men and four women, age 21-57 y, median = 36) and 16 healthy volunteers (10 men and six women, age 22-42 y, median = 30) took one or two doses of 111In-labelled polystyrene pellets perorally to mark colorectal contents. Abdominal scintigraphy was performed before and after defecation. Total colorectal emptying and segmental antegrade or retrograde transport was computed. Median colorectal emptying during normal defecation was 81% of the rectosigmoid (range: 53% of the rectosigmoid to complete emptying of the rectosigmoid and 40% of the descending colon) in healthy volunteers and 27% of the rectosigmoid (range: 0-44% of the rectosigmoid) in patients with conal/cauda equina lesions (P < 0.001). Median antegrade transport was 82% (control group) vs 27% (patients) of the rectosigmoid (P < 0.001), 38% vs 4% of the descending colon (P < 0.02), 13% vs 1% of the transverse colon (P = 0.28), and 4% vs 2% of the caecum/ascending colon (P = 0.76). It is concluded that damage to reflex arches between the colorectum and the sacral spinal cord significantly reduces emptying of the rectosigmoid and descending colon during defecation.     

Sexual function in men with cauda equina lesions: a clinical and electromyographic study

OBJECTIVE: To investigate the effects of cauda equina lesions on sexual function in men. METHODS: Sexual function was investigated in 46 men with long standing cauda equina/conus medullaris lesions. All had clinical and radiological findings supporting the diagnosis. The validated Slovene translation of the international index of erectile function (IIEF) was used. The responses were scored and sexual dysfunction categorised as absent, mild, moderate, or severe. The number of patients receiving help for sexual dysfunction was noted. Neurological examination of the trunk and lower limbs, electromyographic (EMG) evaluation of the sacral reflex, and quantitative EMG of the external anal sphincter muscles were done. RESULTS: Severe sexual dysfunction was reported by 35% of patients, moderate dysfunction by 24%, and slight dysfunction by 26%; normal sexual function was reported by 15%. Orgasmic function was slightly more impaired than erectile function, and sexual desire slightly less. The patients' age, but no findings on clinical neurological or EMG examination, correlated with sexual function. Only five men had received medical attention for sexual dysfunction. CONCLUSIONS: There is significant sexual impairment in men with lesions of the cauda equina or conus medullaris. This is poorly correlated with neurological and EMG findings and has received insufficient medical attention.     

Bowel dysfunction in patients with cauda equina lesions

Despite their serious sequels on bowel function, lesions of the cauda equina have not been previously systematically studied in larger patient populations. This was the aim of the present report. From the registrars of a diagnostic and rehabilitation centres 67 patients with clinical, electrodiagnostic and radiological findings supportive of the cauda equina lesions were recruited. The Slovene versions of the standard questionnaires for anal incontinence and constipation were used. The responses were scored, impairments categorized and previous treatments noted. Neurological examination, electromyography (EMG) of lumbo-sacral myotomes, quantitative anal sphincter EMG and electromyographic evaluation of the sacral reflex were performed. Severe anal incontinence/constipation was reported by 18%/0%, moderate by 36%/33%, and slight by 28%/43% of our patients. Twenty-one per cent of patients wore pads continuously and 14% occasionally. More than half of the patients (60%) reported changes in their lifestyle due to anal incontinence. No patient had completely normal findings on neurological examination. Perianal sensory loss correlated ( P  < 0.05) with anal incontinence and gender with constipation (women >men). Only two patients had received medical attention for bowel dysfunction. Study thus demonstrated significant bowel impairment in patients with lesions of the cauda equina, which has received insufficient medical attention.     

神经电生理监测技术在圆锥马尾病变手术中的应用

目的探讨神经电生理监测技术在圆锥马尾病变手术中应用价值。方法回顾性分析110例圆锥马尾病变患者临床资料,其显微外科手术均在神经电生理监测下进行,感觉诱发电位(somatosensory evoked potential,SEP)和运动诱发电位(motor evoked potential,MEP)监测脊髓功能,肌电图(electromyography,EMG)确定肿瘤切除范围。结果显微镜下病变全切除92例(83.6%),次全或大部分切除18例(16.4%)。术后随访1~58个月,神经系统查体及JOA评分发现脊髓神经功能改善102例(92.8%),无变化4例(3.6%),下降4例(3.6%)。对病变切除前与切除后SEP潜伏期和波幅以及MEP潜伏期进行自身比较,脊髓神经功能改善和下降患者电生理监测指标改变差异有统计学意义(P0.05),脊髓神经功能无变化患者相关监测指标改变差异无统计学意义(P0.05),神经电生理监测指标的变化与术后脊髓神经功能改善情况基本相吻合。结论术中神经电生理监测可以实时了解脊髓神经功能的完整性,结合显微神经外科技术可以明显提高圆锥马尾病变的全切率,减少术后并发症,提高手术疗效及安全性。     

Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell—Seeded collagen foam

Introduction: Treatments for patients with cauda equina injury are limited. Methods: In this study, we first used retrograde labeling to determine the relative contributions of cauda equina motor neurons to intrinsic and extrinsic rat tail muscles. Next, we transected cauda equina ventral roots and proceeded to bridge the proximal and distal stumps with either a type I collagen scaffold coated in laminin (CL) or a collagen–laminin scaffold that was also seeded with Schwann cells (CLSC). Regeneration was assessed by way of serial retrograde labeling. Results: After accounting for the axonal contributions to intrinsic vs. extrinsic tail muscles, we noted a higher degree of double labeling in the CLSC group (58.0 ± 39.6%) as compared with the CL group (27.8 ± 16.0%; P = 0.02), but not the control group (33.5 ± 18.2%; P = 0.10). Discussion: Our findings demonstrate the feasibility of using CLSCs in cauda equina injury repair. Muscle Nerve 57 : E78–E84, 2018     

Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis

In this study we aim to establish a motor nerve conduction study (NCS) for the cauda equina and examine its usefulness in multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis (ALS). NCS of the tibial nerve proximal to the knee was performed with an optimized high-voltage electrical stimulation (HV-ES) method in 21 normal subjects, 5 with MMN, and 11 with ALS. HV-ES, but not magnetic stimulation, could supramaximally stimulate the cauda equina. Cauda equina motor conduction time determined by HV-ES, but not that with F-waves, correlated well with cauda equina length on magnetic resonance imaging. HV-ES revealed proximal lesions in 4 MMN patients but in none of the ALS patients. Importantly, 1 patient with "MMN without conduction block (CB)" had a CB in the cauda equina. Cauda equina motor conduction is better evaluated by HV-ES than with F-wave study or magnetic stimulation. HV-ES can help to distinguish MMN and "MMN without CB" from ALS.     

Slowed motor conduction in lumbosacral nerve roots in cauda equina lesions: a new diagnostic technique.

New techniques have been developed for the electrophysiological assessment of patients with suspected cauda equina lesions using transcutaneous spinal stimulation (500-1500 V: time constant 50 microseconds) to measure motor latencies to the external and sphincter and puborectalis muscles from L1 and L4 vertebral levels. These latencies represent motor conduction in the S3 and S4 motor roots of the cauda equina between these levels. Similarly motor latencies can be recorded from spinal stimulation to the anterior tibial muscles (L4 and L5 motor roots). Transrectal stimulation of the pudendal nerves is used to measure the pudendal nerve terminal motor latency. In 32 control subjects, matched for age and sex, mean motor latencies from L1 and L4 spinal stimulation were 5.5 +/- 0.4 ms and 4.4 +/- 0.4 ms (mean + SD). In the 10 patients with cauda equina disease including ependymoma, spinal stenosis, arachnoiditis and trauma, these latencies were 7.2 +/- 0.8 ms and 4.6 +/- 0.9 ms, a significant increase in the L1 latency. The L1/L4 latency ratios to the puborectalis muscle were 1.36 +/- 0.09 in control subjects and 1.72 +/- 0.13 in cauda equina patients. Pudendal nerve terminal motor latencies were normal in eight of the 10 patients with cauda equina disease. The single fibre EMG fibre density in the external and sphincter muscle (normal, 1.5 +/- 0.16) was increased in patients with cauda equina lesions (1.73 +/- 0.28), but was increased more than two standard deviations from the mean only in three patients. This increase in fibre density was not of diagnostic value since it was also found in two of the four patients with low back pain. Slowing of motor conduction in the cauda equina is thus a useful indication of damage to these intraspinal motor roots. These investigations can be used in the selection of patients for myelography, and to follow progress in patients managed conservatively.     

Saddle sensation is preserved in a few patients with cauda equina or conus medullaris lesions1

Although saddle sensory deficit seems the most useful clinical sign in the diagnosis of a cauda equina or conus medullaris lesion, findings of previous studies were controversial. The aim of the present study was to try to resolve this issue. The data from the author's series of patients with clinical, electrodiagnostic and radiological findings compatible with a cauda equina lesion were reviewed. Of the 117 patients in the series, 11 (10 men) did not have a saddle sensory deficit. These 11 patients had less severe sacral dysfunction than the others, and none of them needed urgent surgical intervention. They all had electromyographic (EMG) signs of a significant motor fibre lesion, and in seven men the sacral (penilo‐cavernosus) reflex was clinically abnormal. The study revealed normal saddle sensation in approximately 10% of patients with cauda equina or conus medullaris lesions. Dissociation between preserved touch sensation and abnormal EMG findings, as well as dissociation between preserved touch sensation and a non‐elicitable penilo‐cavernosus reflex might be explained by preservation of the thinner sensory nerve fibres, which are more resistant to compression. Although, saddle sensory loss seems to identify patients who might benefit from urgent spinal imaging and surgery, further diagnostic evaluation is also indicated in patients with normal saddle sensation, particularly due to the increased frequency of spinal tumours found in this subgroup.     

Differential effects of selective and non‐selective muscarinic antagonists on gastrointestinal transit and bowel function in healthy women

Background The gastrointestinal effects of antimuscarinic drugs used to treat overactive bladder may be related to the selectivity of these agents for M₃‐muscarinic receptor subtypes. We compared the effects of non‐selective (fesoterodine) and M₃‐selective (solifenacin) antimuscarinics on gastrointestinal transit in healthy women. Methods Gastric emptying (GE), small‐intestinal transit (colonic filling at 6 h), colonic transit [geometric center at 24 h (GC24; primary endpoint) and 48 h (GC48)], and bowel habits were assessed by scintigraphy and bowel diaries before and after randomization to fesoterodine 8 mg, solifenacin 10 mg, or placebo (2 : 2 : 1) for 14 days. An interim analysis to finalize sample size was conducted. Key Results After 60 subjects [placebo (n = 12), fesoterodine (n = 25), solifenacin (n = 23)] completed the study, the study was terminated due to a prespecified criterion (sample size ≥452.5 needed to provide ≥80% power to demonstrate superiority of fesoterodine over solifenacin in GC24). Compared with baseline, (i) placebo delayed small‐intestinal, but not colonic, transit, (ii) fesoterodine significantly increased GE t_1/2vs placebo (17.0 min; P = 0.027), and (iii) fesoterodine and solifenacin delayed small‐intestinal (?36.8% and ?21.8%, respectively, P < 0.001 vs placebo) and colonic transit (GC24: ?0.44 and ?0.49, respectively, P < 0.05 vs placebo; GC48: ?0.25 and ?0.65, respectively, P > 0.05 vs placebo). Solifenacin increased stool hardness from baseline (P = 0.010 for difference vs fesoterodine); stool frequency was comparable. Conclusions & Inferences In healthy women, fesoterodine had greater effects on small‐intestinal transit and solifenacin had greater effects on colonic transit; the latter finding may explain why solifenacin, but not fesoterodine, increased stool hardness. (ClinicalTrials.gov ID: NCT00892034).     

Previously unknown thyroid dysfunction in patients with acute ischemic stroke

Bengtsson D, Brudin L, Wanby P, Carlsson M. Previously unknown thyroid dysfunction in patients with acute ischemic stroke.
Acta Neurol Scand: 2012: 126: 98–102
© 2011 John Wiley & Sons A/S. Objectives – Opinions differ regarding the clinical significance of subclinical thyroid disorders. The aim of the present study was to evaluate the prevalence and influence of previously unknown overt or subclinical thyroid dysfunction in patients with acute ischemic stroke and to look for differences between cardio‐embolic and non‐embolic ischemic stroke. Material and methods – A total of 153 Swedish patients diagnosed with first‐time acute ischemic stroke were included in the study and categorized for suspected cardio‐embolic (n = 30) or non‐embolic (n = 123) ischemic stroke depending on the presence of atrial fibrillation (AF). Blood samples were taken 48 h or earlier after onset of stroke symptoms. Results – Previously, unknown overt or subclinical thyroid dysfunction was found in 12%. Previously, unknown overt or subclinical hyperthyroidism was more common in the AF group (13%) compared to the non‐AF group (3%), P = 0.048. Patients with AF had slightly higher concentrations of free T4 (15 vs 14 pm ; P < 0.001), but there was no significant difference in concentrations of S‐TSH or prevalence of thyroperoxidase (TPO) antibodies between the groups. Conclusions – In patients with first‐time acute ischemic stroke, unknown thyroid dysfunction is common, and unknown overt or subclinical hyperthyroidism is associated with cardio‐embolic stroke.     

Upper leg conduction time distinguishes demyelinating neuropathies

Background: The objective of this study was to determine whether differentiation between demyelinating and axonal neuropathies could be enhanced by comparing conduction time changes in defined segments of the total peripheral nerve pathway. Methods: Compound muscle action potentials (CMAPs) were elicited by cathodal stimulation of the tibial nerve at the ankle and popliteal fossa, and by paravertebral neuromagnetic stimulation at proximal and distal cauda equina while recording from muscles of the foot, shin, and thigh. Segmental conduction times were calculated in normal subjects; in patients with lumbosacral radiculopathy, distal symmetric diabetic neuropathy, amyotrophic lateral sclerosis, acute and chronic inflammatory demyelinating polyneuropathy; and in patients with anti–myelin‐associated glycoprotein, myelomatous, and Charcot–Marie–Tooth type 1a polyneuropathies. Results: Distal cauda equina latency and CMAP duration and segmental conduction times in upper leg and cauda equina facilitated differentiation of demyelinating from axonal neuropathies, even in the presence of a range of reduced amplitude CMAPs. Conclusions: Within the demyelinating neuropathy spectrum, it was further possible to distinguish subtypes. Muscle Nerve, 2011     

Non-Hodgkin’s lymphoma involving the cauda equina and ocular cranial nerves: case reports and literature review

Although rare, direct infiltration of the cauda equina by non-Hodgkin's lymphoma (NHL) must be considered as a potential cause of subacute onset paraplegia. We present two cases of lymphomatous involvement of the cauda equina presenting with subacute paraplegia, each associated with a palsy of an oculomotor nerve. We highlight the need to use gadolinium-enhanced magnetic resonance imaging (MRI) when investigating potential cauda equina lesions, since it is crucial in detecting and outlining the extent of disease. Differential diagnoses and treatment options for NHL involving the cauda equina are also discussed.     

Autonomic dysfunction in presymptomatic and early symptomatic Huntington’s disease

Kobal J, Melik Z, Cankar K, Bajrovic FF, Meglic B, Peterlin B, Zaletel M. Autonomic dysfunction in presymptomatic and early symptomatic Huntington’s disease.
Acta Neurol Scand: 2010: 121: 392–399.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives – Although autonomic dysfunction was found in advanced Huntington’s disease (HD) patients it is not clear whether there is autonomic dysfunction in presymptomatic and early symptomatic HD. Material & methods – Different cardiovascular autonomic tests were performed in 14 presymptomatic HD mutation carriers (PHD), 11 early symptomatic HD patients (EHD) and in 25 sex and age matched controls. Results – We found attenuated response to simple mental arithmetic test (relative heart rate in PHD and EHD was 10% lower than in controls; diastolic pressure was 10.6% lower in EHD than in controls; P < 0.05) and exaggerated response to the late phase of cold pressor test (relative heart rate was 10% higher in PHD and 7% higher in EHD than in controls; P < 0.05). The rest of the cardiovascular autonomic tests did not reveal significant differences between patients and controls. Conclusions – Our results suggest that subtle autonomic dysfunction occurs even in PHD and EHD.     

Cauda equina syndrome with normal MR imaging

The aim of this study was to compare the clinical characteristics of patients with and without abnormal MR imaging admitted to a neurosurgical unit with suspected cauda equina syndrome using a retrospective study of consecutive admissions to a regional neurosurgical unit over a 10-month period. Clinical details were obtained from the case notes. A lumbar spine MR scan to investigate possible cauda equina syndrome was performed in 66 patients. There were no significant differences between those with abnormal imaging (n = 34, 52%) and those with a normal scan (n = 32, 48%) in respect of sex, clinical history or features recorded on examination. Those with normal imaging had a high frequency of weakness (n = 18, 59%), saddle numbness (n = 17, 57%), leg numbness (n = 24, 80%), urinary incontinence (n = 13, 54%) and urinary retention (n = 9, 53%). A large number of patients present to neurosurgical units with symptoms suggestive of cauda equina syndrome without any radiological evidence of structural pathology. While some may have had an alternative organic cause, we propose that these symptoms may have a “functional” origin in many patients.     

Malignant peripheral nerve sheath tumor of the cauda equina with craniospinal metastasis

Intradural spinal malignant peripheral nerve sheath tumors (MPNST) are extremely rare, with only 20 adult patients reported to our knowledge, and only four primary tumors arising from the cauda equina. A 49-year-old man presented with back pain, constipation, and lower extremity weakness and was found to have a large intradural lesion involving the cauda equina. Imaging of the rest of his neuraxis revealed additional small left temporal lobe, cervical, and thoracic lesions. The patient underwent laminectomy for tumor debulking and biopsy, as gross total resection was not possible due to envelopment of the cauda equina. Histopathology revealed a MPNST with high cellularity, elevated proliferative indices, and nerve fascicle invasion. After the debulking, the patient reported improvement in his symptoms. However, 6 weeks later, the patient began having severe headaches, and his left temporal lobe lesion was found to have increased significantly in size, requiring craniotomy for palliative resection. The authors report the first adult patient with sporadic spinal MPNST with craniospinal metastasis to our knowledge. Imaging of the entire neuraxis is recommended for initial workup of these lesions, which are capable of intradural spread. The best treatment approach is unclear, but total surgical resection should be attempted, barring infiltration and engulfment of the nerve roots or widespread dissemination.     

Lumbosacral evoked potentials (LSEPs) and cortical somatosensory evoked potentials (SEPs) in patients with lesions of the conus medullaris and cauda equina

Evoked potentials from unilateral stimulation of the posterior tibial nerve at the knee were recorded over the spinous processes S1, L4, L2, T12 and from the 'lower extremity' portion of the sensory cortex (Cz) in 29 patients who exhibited clinical and electromyographic signs of conus medullaris or cauda equina lesions. Simultaneous recording of the lumbosacral evoked potentials (LSEPs) and cortical somatosensory evoked potentials (SEPs) permitted evaluation of the relative effectiveness of the peripheral stimulus in eliciting responses in the lumbosacral segments of the spinal cord and in the cortex of the brain. In patients with cauda equina lesion, each major component of LSEP can be absent or the peak can have a reduced amplitude and a prolonged latency. The degree of impairment of the LSEP runs in parallel to the degree of severeness of the cauda equina lesion. The recording of LSEP responses with surface electrodes represents a reliable test for the detection of mild cauda equina abnormalities, but the surface recording technique is not sensitive enough to differentiate between severe incomplete and severe complete cauda equina lesions. On the other hand, concurrent recording of responses evoked at lumbosacral and cortical levels by the same stimuli did detect instances in which the first-order afferents were capable of delivering an adequate volley of impulses to evoke a sizeable cortical response without evidence of an associated postsynaptic response in the spinal cord. Such findings are good evidence of a problem localized in the gray matter of the spinal cord.(ABSTRACT TRUNCATED AT 250 WORDS)     

Apraxia related with subcortical lesions due to cerebrovascular disease

Tabaki NE, Vikelis M, Besmertis L, Vemmos K, Stathis P, Mitsikostas DD. Apraxia related with subcortical lesions due to cerebrovascular disease.
Acta Neurol Scand: 2010: 122: 9–14.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives – To examine whether ideomotor apraxia exists in patients with subcortical ischemic lesions. Patients and Methods – A matched‐control, prospective and multi‐centered research design was used. Ideomotor apraxia, anxiety and depression were assessed by the Movement Imitation Test and the Hamilton scales, respectively. Results – Forty two consecutive patients with subcortical ischemic stroke and an equal number of healthy participants, matched in age and sex were included. Paired‐sample t‐tests showed that patients had significantly more apractic elements in their movements (t = 5.03, P < 0.01), higher anxiety (t = ?2.55, P = 0.0014) and depression levels (t = ?2.61, P = 0.012) than their healthy matched participants. Participants with higher anxiety and depression scores performed worse on the Movement Imitation Test. Conclusions – Ischemic damage of subcortical modular systems may affect praxis.     

Clinical correlates of autonomic dysfunction in patients with Machado‐Joseph disease

França Jr MC, D’Abreu A, Nucci A, Lopes‐Cendes I. Clinical correlates of autonomic dysfunction in patients with Machado‐Joseph disease.
Acta Neurol Scand: 2010: 121: 422–425.
© 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Background – Autonomic dysfunction is a usual feature of several neurological conditions characterized by either extra‐pyramidal and/or peripheral damage, such as those seen in Machado‐Joseph disease (MJD). Aims of the study – We used clinical evaluation and sympathetic skin responses (SSR) to assess autonomic function in a large series of patients with MJD. Methods – A total of 50 patients were enrolled in this study and all of them had the molecular confirmation of MJD by DNA genotyping. In addition, a group of 20 control subjects was included. Results – Overall, autonomic complaints were more frequent in patients than in control subjects, especially those related to the genitourinary and sudomotor systems. Eighteen patients (36%) presented abnormal SSR. Age at onset, duration of disease and length of expanded (CAG)_n were not different between patients with and without dysautonomia. However, severe dysautonomia was significantly associated with polyneuropathic or parkinsonian phenotypes in patients with MJD. Conclusion – Autonomic symptoms are common, but possibly under recognized in patients with MJD; therefore, we believe that autonomic complaints should be sought in patients with MJD, especially in those with parkinsonian or polyneuropathic phenotypes.