BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. OBJECTIVE: To assess peripheral neuropathy in patients with CADASIL. PATIENTS AND ...

OBJECTIVE: To describe the clinical features, MRI findings, and the pathogenesis of the pure midbrain infarction. METHODS: Forty patients with infarcts limited to the midbrain were studied. MRI and angiography (mostly MR angiography) were performed in all patients. RESULTS: Clinical manifestations included gait ataxia in 27 (68%) patients, dysarthria in ...

Generalised anhidrosis (GA) shows a uniform clinical picture whether the pathogenesis involves intrinsic abnormalities of sweat glands or postganglionic sympathetic cholinergic nerve dysfunction. We describe two patients who presented intolerance to heat and anhidrosis. In the first patient, symptoms started at 33 years of age, and were associated with absent ...

BACKGROUND AND PURPOSE: The role of diffusion tensor imaging (DTI) in neurosurgical planning and follow-up is currently being defined and needs clinical validation. To that end, we sought correlations between preoperative and postoperative DTI and clinical motor deficits in patients with space-occupying lesions involving the corticospinal tract (CST). METHODS: DTI ...

Coeliac disease is associated with numerous neurological manifestations including cerebellar ataxia, myelopathy, myopathy, and peripheral neuropathy. This report describes four patients who presented subacutely with presyncope and postural nausea. All four patients had biopsy proven coeliac disease with dysautonomia present on autonomic evaluation. These four patients comprised 2.4% of patients ...

We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitochondria in Schwann cells and in endothelial cells in nerve biopsy specimens. Two of these patients had a Charcot-Marie-Tooth (CMT) presentation. ...

A retrospective study was performed on 27 patients with hepatitis C (HCV)-related mixed cryoglobulinemia (purpura, arthralgia, hepatitis, glomerulonephritis, peripheral neuropathy) to assess peripheral nerve involvement during follow-up of up to 8 years. All patients had the same degree of organ/system involvement initially and were clinically evaluated at least annually. All ...

PURPOSE: To report two patients who experienced improved drinking ability as well as facial appearance with contralateral injection of botulinum toxin. DESIGN: Retrospective case reports. METHODS: Two patients were treated with botulinum toxin contralateral to the VIIth nerve palsy to improve drinking ability as well as facial asymmetry. RESULTS: Botulinum ...

The aim of this study was to investigate the clinical, demographic, and electromyographic (EMG) characteristics of 12 earthquake victims in the pediatric age group and to compare the findings with those of the adult group. Following the 1999 Marmara earthquake, 75 subjects with suspected peripheral nerve injury were referred to ...

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is caused by mutations in the tyrosin kinase A (TrkA) gene, encoding for the high-affinity receptor of nerve growth factor (NGF). The NGF-TrkA system is expressed in many endocrine glands. We hypothesized that HSAN IV represents a natural model for impaired ...

BACKGROUND: Ulnar neuropathy can cause pain, weakness, and sensory changes in the hand and can result in functional impairment. Patients with end-stage renal disease receiving hemodialysis may be predisposed to ulnar neuropathy by factors such as arm positioning during hemodialysis, underlying polyneuropathy, and upper extremity vascular access. OBJECTIVE: To determine ...

Neuromodulation for pelvic floor dysfunction has evolved from central sacral stimulation, a relatively invasive, experimental procedure, to percutaneous peripheral neurostimulation, which is both minimally invasive and well-tolerated by patients. Multiple series have now reported consistent positive results for varied manifestations of pelvic floor dysfunction. Future applications will involve an implantable ...

We present 30 cases of femoral nerve entrapment (1999-2003, age range 35-65 yrs), in 13 patients with diagnosis of idiopathic compression and 7 patients of neurovascular conflict. The compression, in the other 10 patients, was iatrogenic: 3 patients following cardiac catheterization for balloon valvotomy, 2 patients following intra-abdominal vascular surgery ...

BACKGROUND: In contrast to the IgM monoclonal gammopathies the neuropathy associated with polyclonal IgM gammopathy has not been well characterized. OBJECTIVE: To characterize the neuropathy in patients with elevated serum IgM. DESIGN: Retrospective review. SETTING: Academically based neuropathy center. PATIENTS: 45 patients with elevated quantitative immunoglobulin M were identified. MAIN ...

OBJECTIVE: To describe motor and functional recovery in 4 patients with acute flaccid paralysis associated with West Nile virus (WNV) infection. DESIGN: A case series describing patient clinical features at admission to rehabilitation through 6-month follow-up. SETTING: Academic acute free-standing inpatient rehabilitation hospital. PARTICIPANTS: The patients (3 men, 1 woman; ...

A Martin-Gruber anastomosis (MGA) commonly results in an abnormal decline in amplitude across the forearm segment when ulnar motor nerve conduction studies are performed. A recent report described a proximal MGA resembling partial conduction block in a patient with ulnar neuropathy at the elbow (UNE). As a result, we screened ...

Because autonomic neuropathy (AN) is not routinely assessed in chronic alcoholism, its features and relationship with other disease parameters remain undefined. The very existence of true alcohol-related autonomic dysfunction, in the absence of alcoholic hepatopathy, is even controversial. We aimed this study at evaluating the frequency and pattern of AN ...

BACKGROUND: There is controversy regarding whether, and how frequently, other cranial nerve deficits accompany Bell's palsy. We sought to determine prospectively the presence of signs indicating an associated cranial neuropathy in patients with Bell's palsy. METHODS: All subjects presenting to an emergency department with Bell's palsy over a 2-year period ...

BACKGROUND: Cranial nerve lesions due to metastases from prostate carcinoma to the skull base are an uncommon yet clinically significant finding. METHODS: The authors report the clinical features, treatment, and outcomes for 15 patients who presented with cranial nerve palsies complicating metastatic prostate carcinoma. Patient charts identified from a Fox ...

Response to therapeutic plasma exchange (TPE) was evaluated in patients diagnosed with Guillain-Barré Syndrome (GBS). Our aim was to assess response to TPE in patients who had failed treatment with intravenous immune globulin (IVIg). We conducted a retrospective chart review of 10 patients with the diagnosis of Guillain-Barré Syndrome who ...

Three patients with acute multiple cranial neuropathy following benign infectious disease are reported. Complete or partial ophthalmoplegia, as well as facial and bulbar dysfunction, were noted in all. Cranial nerve involvement was bilateral. Other neurological deficits included sensory loss in two patients and transiently reduced tendon reflexes in the left ...

OBJECTIVE: The purpose of this study was to investigate the prevalence of peripheral neuropathy in patients with beta-thalassaemia. METHODS: Thirty six patients with a mean age of 29.2+/-8.2 years and 17 healthy controls with a mean age of 27.6+/-9.1 were included in this study. Measurements included the neuropathy symptoms score ...

5-fluorouracil (5-FU)-associated peripheral neuropathy is an uncommon event. Capecitabine (CAP) is a pro-drug of 5-FU and peripheral neuropathy associated with CAP has not been reported. During analysis of 28 patients receiving CAP with concomitant radiation (XRT) for pancreatic cancer (resected or locally advanced), two patients developed signs and symptoms consistent ...

Outcome studies of revision surgical treatment for recurrent or persistent neuropathy of the ulnar nerve at the elbow are relatively rare and none involves patient self-assessment. In this study of 40 patients (41 elbows), a clear discrepancy is shown between clinical assessment and the patient's own view. From clinical assessment, ...

BACKGROUND: Pure neuritic leprosy (PNL) constitutes a significant proportion of all cases in India, however, this form of disease has not been fully recognized and investigated and there is little information in the existing literature. OBJECTIVE: To study the epidemiological characteristics of PNL in India. MATERIALS AND METHODS: A retrospective ...

Laryngeal Electromyography (LEMG) is a diagnostic test commonly used in patients with vocal fold movement disorder. The aim of this study is to describe LEMG in patients with vocal fold immobility. A total of 55 dysphonic patients with vocal fold immobility diagnosed by laryngeal endoscopy were grouped according to probable ...

The authors retrospectively reviewed the efficacy of mycophenolate mofetil (MMF; mean dose, 2 g/day given for an average of 14 months) in 21 patients with immune demyelinating polyneuropathy. There were no significant differences in the median strength, sensory, or Rankin scores before and after treatment. In patients with immunoglobulin (Ig) ...

Neurofibromatosis 1 (NF1) is a common disease which is a source of various multisystemic manifestations related either to the accumulation of neurofibromas or to specific developmental abnormalities. The neurofibroma is the hallmark lesion of NF1 and develops from peripheral nerves. However, to date, the description of peripheral neuropathies of NF1 ...

Lewis-Sumner syndrome (LSS) is a dysimmune peripheral nerve disorder, characterized by a predominantly distal, asymmetric weakness mostly affecting the upper limbs with sensory impairment, and by the presence of multifocal persistent conduction blocks. The nosological position of this neuropathy in relation to multifocal motor neuropathy (MMN) and chronic inflammatory demyelinating ...

OBJECTIVE: To investigate trigeminal-nerve, brain-stem, and brain function, in order to disclose a possible nervous system involvement in neurologically asymptomatic systemic sclerosis (SSc) patients. METHODS: Using a standard electromyographic (EMG) technique, we recorded the early (R1) and late (R2) components of the blink reflex in 35 SSc patients with no ...

OBJECTIVES: Neurophysiological studies have shown an impairment of temperature perception in secondary and idiopathic restless legs syndrome (RLS). It is unclear whether these deficits are caused by peripheral nerve fibre damage or by central impairment of somatosensory processing. The aim of the present study was (1) to determine the frequency ...

Thalidomide has been proved to play an important role in rescue treatment of patients with refractory/relapsed multiple myeloma (MM). However, thalidomide therapy is associated with numerous side effects, mainly somnolence, constipation, fatigue or peripheral neuropathy. We report three patients diagnosed with MM and treated with thalidomide as salvage therapy who ...

OBJECTIVE: Motor and sensory nerve conductions, F responses, sympathetic skin responses and R-R interval variations (RRIV) were studied to determine the type of peripheral neuropathy among patients with leprosy. METHODS: Twenty-nine consecutive patients with leprosy (25 male, 4 female) hospitalized in the "Istanbul Leprosy Hospital" between January - December, 1999 ...

We report the clinical and electrophysiological findings in seven patients with Lambert-Eaton myasthenic syndrome (LEMS). All patients were males aged 40-73 years old. Six presented proximal muscle weakness and one both proximal and distal. The tendon reflexes were absent in four patients, depressed in two and normal in one patient. ...

Behçet's disease (BD) is a multisystem disorder. Since its first description, the involvement of many organ-systems has been studied. However, the involvement of the peripheric nervous system has not been well documented yet. Twenty-six patients involved in the study were without prominent complaints of neuropathic symptoms. They were surveyed through ...

BACKGROUND: A retrospective study to evaluate the clinical and electrophysiological profile of brachial plexus lesions in a tertiary care center of India. METHODS: Thirty eight patients with brachial plexopathy (idiopathic or traumatic) with detailed electrophysiological studies were sampled. This included detailed motor and sensory nerve conduction studies of the conventional ...

: The purpose of this study was to describe the relationship between balance and foot sensibility in a population of patients with impaired lower extremity sensation. The hypothesis was that increasing impairment of sensation correlates with impaired balance. To date, no report has investigated the relationship between loss of balance ...

BACKGROUND: Peripheral neuropathy is a common problem that often prompts a lengthy and expensive diagnostic evaluation. A rational, evidence-based diagnostic approach to peripheral neuropathy is desirable. Prior studies have focused on all patients presenting to a tertiary referral center with a diagnosis of unclassified neuropathy. However, most patients with peripheral ...

The role for immediate neuroimaging in patients 50 years of age or older with acute isolated third, fourth, and sixth nerve palsies is controversial. We prospectively evaluated 66 patients, aged 50 years and older (median 67 years, range 50-85), with acute isolated ocular motor mononeuropathies. Our purpose was to evaluate ...

BACKGROUND: Peripheral neuropathy in Fabry disease predominantly involves small nerve fibers. Recently, enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase A has become available. OBJECTIVE: To evaluate whether ERT improves Fabry neuropathy. METHODS: In 22 Fabry patients (age 27.9 +/- 8.0 years) undergoing ERT with recombinant human alpha-galactosidase A (agalsidase ...

OBJECTIVE: To report the outcomes of cubital tunnel surgery for patients with absent ulnar sensory nerve conduction. METHODS: The charts of 34 patients who exhibited clinical symptoms of ulnar nerve entrapment at the elbow and who had electromyography-confirmed prolonged motor nerve conduction across the cubital tunnel in association with absent ...

OBJECTIVE: This study reviewed patients with unilateral facial paralysis and normal clinical and imaging findings who underwent diagnostic facial nerve exploration. Study design and setting Fifteen patients with facial paralysis and normal findings were seen in the Mayo Clinic Department of Otorhinolaryngology. RESULTS: Eleven patients were misdiagnosed as having Bell ...

OBJECTIVES: Numerous sets of electrophysiological criteria of chronic inflammatory demyelinating polyneuropathy (CIDP) have been proposed, among which the criteria established by an ad hoc subcommittee of the American Academy of Neurology (AAN) in 1991 (Neurology 41 (1991) 617) are the most widely used. As they seemed rather restrictive, the Inflammatory ...

Electrodiagnosis plays an important role in the early detection and characterization of inflammatory demyelinating polyradiculoneuropathies, because timely treatment reduces morbidity and disability. The challenge consists of defining electrodiagnostic criteria that are highly specific for primary demyelination but sufficiently sensitive to be useful in clinical practice. We compared 10 published sets ...

One thousand and thirty-one longstanding patients with subacute myelo-optico-neuropathy (SMON; 275 males, 756 females; mean age +/- S.D., 72.9 +/- 9.6 years; age at onset 37.6 +/- 9.8 years; duration of illness 35.3 +/- 4.0 years) were examined in 2002, 32 years after banning of clioquinol. At onset, 66.7% of ...

OBJECTIVE: To determine the diagnostic value of high-resolution sonography in ulnar neuropathy at the elbow (UNE). METHODS: Sonographic ulnar nerve diameter measurement was compared at three levels around the medial epicondyle with a criterion standard including clinical and electrophysiologic characteristics in a cohort of 123 patients presenting with clinical signs ...

Involvement of sensory nerves in Charcot-Marie-Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, ...

Patients with a progressive disabling idiopathic axonal neuropathy could have a potentially treatable immune mediated neuropathy. To evaluate whether progressive idiopathic axonal neuropathy could be a pathologically difficult to prove vasculitic neuropathy pathologically difficult to prove or if it could be a separate clinical entity (i. e. with the axon ...

BACKGROUND: Recurrent Guillain Barre' syndrome (RGBS) is a rare condition and there is a paucity of clinical and neurophysiological studies. AIM: This study was undertaken to evaluate the clinical and neurophysiological changes in patients with recurrent GB syndrome and their outcome. METHODS: We report 11 patients with RGBS out of ...

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype, ...