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Tibussek D - - 2009
BACKGROUND: Neurofibromatosis type 2 (NF2) has long been regarded as an adult onset disease. However, it is now known that many NF2 patients present clinical signs and symptoms in early childhood. We here report an illustrative case of a male adolescent with an infantile onset clinical symptomatology. PATIENT: A 15-year-old ...
Voermans N c - - 2009
Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve conduction study (NCS), needle electromyography ...
Volpe Alessandro - - 2009
OBJECTIVES: To evaluate, in patients with ulnar neuropathy at the elbow (UNE), if ultrasonographic differences in ulnar nerve size correlate with severity score determined by electrodiagnostic studies. METHODS: We examined prospectively 38 patients (50 elbows) with UNE. Patients were classified into mild, moderate and severe groups according to electrodiagnostic studies. ...
Kimpinski Kurt - - 2009
The nicotinic acetylcholine receptor (nAChR) antibody directly contributes to the autonomic dysfunction in Autoimmune Autonomic Ganglionopathy (AAG). The pathological mechanism leading to autonomic dysfunction in seronegative AAG is unclear. We evaluated patients with presumed antibody negative AAG (n=49) to determine whether there was an association with other autoantibodies. Three patients ...
Bhatia Kunwar S S - - 2009
The aim of the study was to document MRI findings in masticator structures in patients with trismus developing after radiotherapy for nasopharyngeal carcinoma (NPC). MRI neck examinations were reviewed in 35 patients with marked trismus, defined as an interincisal gap of 25 mm or less, post-radiotherapy for NPC. Patients with ...
Bigeleisen Paul E - - 2009
BACKGROUND: A stimulation current of no more than 0.5 mA is regarded as safe in avoiding nerve injury and delivering adequate stimulus to provoke a motor response. However, there is no consistent level of stimulating threshold that reliably indicates intraneural placement of the needle. The authors determined the minimally required ...
De Sousa Eduardo A - - 2009
OBJECTIVE: The objective of this study was to evaluate how the number of demyelinating findings (DF) on nerve conductions affects sensitivity and specificity of electrodiagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Electrodiagnostic findings of 26 consecutive patients with CIDP were compared with amyotrophic lateral sclerosis (ALS) and diabetic ...
Comi Cristoforo - - 2009
Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) are immune-mediated neuropathies. GBS is characterized by acute onset and subsequent remission of symptoms, whereas CIDP displays slow progression over at least 2 months. However, a small proportion of CIDP patients display acute onset CIDP (a-CIDP) resembling that of GBS. The ...
Salonia Andrea - - 2009
INTRODUCTION: The main functional factors related to lifelong premature ejaculation (PE) etiology have been suggested to be penile hypersensitivity, greater cortical penile representation, and disturbance of central serotoninergic neurotransmission. AIMS: To quantitatively assess penile sensory thresholds in European Caucasian patients with lifelong PE using the Genito-Sensory Analyzer (GSA, Medoc, Ramat ...
Koszewicz M - - 2009
AIM: The pathogenesis of Raynaud's phenomenon is still unclear. Neural and intravascular mechanisms are thought to be involved in the pathological process. The role of the autonomic nervous system is continually discussed, with particular attention to over-reactivity of the sympathetic part. The aim of this study was the clinical and ...
Delmaire Christine - - 2009
OBJECTIVE: To determine whether there are diffusion abnormalities along the fibers connecting sensorimotor regions, including the primary sensorimotor areas and the striatum, in patients with writer's cramp using voxel-based diffusion analysis and fiber tracking. Recent studies have shown structural changes in these regions in writer's cramp. DESIGN: Patient and control ...
Okuyucu E E - - 2009
BACKGROUND AND PURPOSE: Peripheral nervous system involvement is rare in sickle cell disease (SCD). The aim of this study is to determine the peripheral nerve involvement electrophysiologically in SCD patients without clinically evident neurological signs, symptoms and to determine the relationship between the frequency of sickle cell crisis and peripheral ...
Valko P O - - 2009
Restless legs syndrome (RLS) is characterized by sensorimotor symptoms that usually are localized in both legs, but may present considerable asymmetry. Patients with strictly and persisting unilateral manifestations have not yet been reported. We describe the clinical and electrophysiological characteristics of three RLS patients with unilateral symptoms. All essential RLS ...
Nebuchennykh Maria - - 2009
The primary aim of our study was to demonstrate how the diagnostic characteristics of skin biopsy used to evaluate small fiber involvement in patients with different causes of polyneuropathy are intrinsically related to the method used to establish the reference values (cut-off values). We also investigated intraepidermal nerve fiber (IENF) ...
Bodkin Cynthia L - - 2009
The presence of afterdischarges on repetitive nerve stimulation may be useful to diagnose cramp fasciculation syndrome, however, the presence and normal duration of afterdischarges has not been well-defined in the normal population and individuals with other neuromuscular diseases. The aim of this pilot study was to describe the distribution of ...
Rauscher C - - 2009
Pontine tegmental cap dysplasia (PTCD) is a newly described hindbrain malformation with distinct neuroradiological findings. Only 12 cases of PTCD have been described so far, all sporadic. We report 2 further patients. Both children presented after birth with significant feeding problems due to impaired mouth opening (previously not reported) and ...
Nowicki Michał - - 2009
AIM: Uremic neuropathy (UN) is a typical complication of long-term dialysis therapy and may manifest as distal, symmetric, and both senso-motoric and autonomic nerve dysfunction. Its clinical picture is highly variable and it is not known how the symptoms of UN reported by chronic dialysis patients correspond to positive results ...
He, Lan
Aim of Investigation: The neurological manifestations of Fabry’s disease, a rare, X-linked, multisystem disorder caused by alpha-galactosidase A deficiency and globotriosylceramide (Gb3) accumulation, include both peripheral and central nervous system symptoms. Here we evaluated a prospectively recruited cohort of patients with Fabry’s disease for pain, small nerve fiber function, and ...
Sheki Ali A - - 2009
To evaluate the role of different neurophysiological tests in the differential diagnosis of diabetic axonal neuropathy (DAN) and lumbosacral radiculopathy (LSR). This study was conducted at Al-Kadhimiya Teaching Hospital, Baghdad, Iraq, from July 2006 to February 2007. Twenty-seven healthy subjects, 44 type 2 diabetics, and 36 LSR patients were studied. ...
Ho Doreen - - 2009
In this study we sought to determine whether axonal damage in severe Guillain-Barré syndrome (GBS) was secondary to critical illness polyneuropathy (CIP) in the intensive care unit (ICU) by reviewing comorbidities in patients who had initial and follow-up electromyographic (EMG) studies. Patients were classified as demyelinating (EMG-D) or axonal (EMG-A) ...
Collins Michael P - - 2009
The primary systemic vasculitides are autoimmune disorders characterized by chronic immune responses directed against vascular structures. They commonly affect small or medium-sized vessels in the peripheral nervous system (PNS), producing vasculitic neuropathies. Some patients develop vasculitis clinically restricted to the PNS, known as nonsystemic vasculitic neuropathy (NSVN), the most commonly ...
Argyriou Andreas A - - 2009
It was the aim of this study to test the hypothesis that the voltage-gated sodium channel gene SCN2A R19K polymorphism confers liability to oxaliplatin-induced peripheral neuropathy (OXLIPN). Sixty-two patients with advanced colorectal cancer were genotyped, using allele-specific primers and SYBR green in real-time polymerase chain reaction. All patients had received ...
Park Susanna B - - 2009
OBJECTIVES: Lhermitte's phenomenon, characterized by 'electric-shock' sensations precipitated by neck flexion, may develop during oxaliplatin treatment. Limited cases have been described previously and the pathophysiology underlying Lhermitte's phenomenon in oxaliplatin-treated patients has not been established. METHODS: Patients who developed Lhermitte's phenomenon during oxaliplatin therapy were investigated by neurological examination, neurotoxicity ...
Souayah N - - 2008
BACKGROUND: Cerebellar syndrome and small fiber neuropathy may complicate celiac disease (CD) and may be resistant to a strict gluten-free diet. METHODS: Case series. RESULTS: We report three patients with biopsy-proven CD who developed cerebellar ataxia and neuropathic pain despite strict adherence to a gluten-free diet. A small fiber neuropathy ...
Hyvärinen Antti - - 2008
OBJECTIVE: The purpose of this study was to assess clinical and neurophysiological changes after 6 mos of transcutaneous electrical stimulation in patients with unresolved facial nerve paralysis. DESIGN: A pilot case series of 10 consecutive patients with chronic facial nerve paralysis either of idiopathic origin or because of herpes zoster ...
Lanzani Francesca - - 2008
We investigated a series of bortezomib-treated patients and correlated the course of bortezomib-induced peripheral neurotoxicity with the presence or absence of peripheral neuropathy at baseline. Forty-eight patients were examined with the total neuropathy score reduced version (TNSr), visual analogue score (VAS) for pain, and nerve conduction studies at baseline and ...
Kim In-Young - - 2008
OBJECT: Schwannomas from the motor cranial nerves controlling eye movement are rare. The authors evaluated the role of Gamma Knife surgery (GKS) in the management of schwannomas originating from cranial nerves III, IV, and VI. METHODS: Over a 7-year period, 8 patients with schwannomas originating from the oculomotor (2 patients), ...
Kabayel L - - 2009
BACKGROUND: Stroke is the third most common cause of mortality and is one of the most common causes of morbidity in the world. Polyneuropathies and entrapment neuropathies are known as the complications of stroke. AIMS OF THE STUDY: In this study we aimed to evaluate the development of entrapment neuropathies ...
Solak O - - 2009
BACKGROUND: The main cause of lichen simplex chronicus (LSC) is not known but there is evidence to suggest that neurological abnormalities may be implicated in its aetiology. AIM: To investigate neuropathy in patients with LSC on the limbs. METHODS: In total, 23 consecutive patients [15 women (65.2%) and 8 men ...
Hattan Erin - - 2009
OBJECTIVE: Associations between peripheral neuropathy and restless legs syndrome (RLS) have been described, but have not been consistently reproduced. If RLS prevalence is truly increased by neuropathy, this has important implications for RLS pathophysiology. METHODS: In a case-control design, 245 patients with peripheral neuropathy and 245 age- and sex-matched controls ...
Galldiks Norbert - - 2008
OBJECTIVE: The electromyography (EMG) of the extraocular muscles (EOM) represents a special form of electrophysiological investigation techniques which can be offered only in a few centers with special ophthalmologic and neurophysiologic expertise due to its special characteristics. The diagnostic value of the EOM-EMG is especially apparent in neuromuscular diseases which ...
Cardenas-Mejia Alexander - - 2008
Shoulder stability and mobility are critical to upper extremity function. The authors evaluated and compared the results of single-, double-, and triple-nerve transfer techniques in producing shoulder abduction in supraclavicular brachial plexus injuries. Between January of 2000 and December of 2004, 90 patients with avulsion type brachial plexus injuries were ...
Bairactaris Chrisostomos - - 2008
A patient with a known history of hypothyroidism due to Hashimoto's thyroiditis presented with a subacute, progressive sensorimotor deficit that affected the upper limbs predominantly. The electrophysiological findings progressively evolved from multifocal motor conduction block to multifocal demyelinating sensory and motor nerve involvement with conduction block, and finally to findings ...
Mimura Tatsuya - - 2008
PURPOSE: To observe the morphology of the corneal cells and corneal nerve fibers in patients with type IV or V hereditary sensory and autonomic neuropathy (HSAN) by in vivo confocal microscopy and elucidate the mechanism leading to the loss of corneal sensation in this disease. METHODS: In vivo confocal microscopy ...
Kutlu Gulnihal - - 2009
Brucellosis is a common infectious disease in Mediterranean countries. We evaluated the peripheral nerve involvement in patients with brucellosis. Thirty-eight patients with brucellosis were examined. Four of them were excluded because of B(12) deficiency and diabetes mellitus. Thirty-four patients were included. The average age was 43.08 +/- 15.3 years. Patients ...
Harty S - - 2008
Maple syrup urine disease (MSUD; OMIM 248600) results from an inherited deficiency of the branched-chain ketoacid dehydrogenase (BCKD) complex. Approximately 20% of patients with BCKD deficiency are non-classic variants of MSUD with differing clinical severity. Outcomes for this cohort are generally favourable; episodes of metabolic decompensation do not appear to ...
Artz Gregory J - - 2008
OBJECTIVE: This article describes the technique and reports the results of endoscopic vascular decompression (EVD) in patients with trigeminal neuralgia (TGN), hemifacial spasm (HFS), and cochleovestibular nerve compressive syndrome. STUDY DESIGN: Retrospective case review. SUBJECTS AND METHODS: This study evaluates the outcome and length of stay (LOS) of 20 patients ...
Jann S - - 2009
BACKGROUND AND AIMS: Chronic inflammatory demyelinating polyneuropathy (CIDP) seems to be more common in patients with diabetes than in the general population. The long term outcome of these patients after receiving intravenous immunoglobulin is unclear and the precise optimal regimen needed has yet to be ascertained. Moreover, the influence of ...
Lo Yew-Long - - 2008
OBJECTIVE: Electrodiagnostic evaluation of distal sensorimotor neuropathy can be technically challenging. Conventional nerve conduction studies (NCS) often include unilateral upper and lower limb evaluation for patients with suspected sensorimotor peripheral neuropathy. For patients with predominantly lower extremity complaints, NCS of both lower limbs are performed occasionally. Side-to-side NCS parameters have ...
Madigan William P - - 2008
PURPOSE OF REVIEW: The superior oblique muscle is a complex structure that evidences considerable variation in its anatomy as well as its rotational effects upon the eye. Our understanding and treatment of patients with superior oblique dysfunction are complicated by our incomplete, though developing, understanding of the sensory and motor ...
Bosley Thomas M - - 2008
PURPOSE: To evaluate a group of patients with isolated, early-onset, bilateral optic neuropathy for genetic and biochemical evidence of mitochondrial diseases. METHODS: This case-control study involved 21 patients, 159 control subjects for mitochondrial (mt)DNA sequencing, and 40 control subjects for relative mtDNA content. Patients were identified who had had decreased ...
Dhir Shalini - - 2008
PURPOSE: To describe the clinical presentation of three patients with Charcot-Marie-Tooth disease, who underwent uneventful upper limb surgery following successful peripheral nerve blockade, and to review the anesthetic implications in patients with Charcot-Marie-Tooth disease.CLINICAL FEATURES: In three patients with Charcot-Marie-Tooth disease presenting for surgery of the upper limb, the motor ...
Shapiro Barbara E - - 2008
Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor ...
Sharma K R - - 2009
BACKGROUND: Evidence is accumulating that patients with polyneuropathy may present with normal clinical deep tendon reflexes (C-DTR). There are few studies that assessed the diagnostic utility of electromyographically recorded DTR (Er-DTR) in patients with polyneuropathy. OBJECTIVES: The objectives of this study were twofold: (i) to evaluate the prevalence of preserved ...
Houlden H H Department of Molecular Neurosciences, Neuro-ophthalmology and MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, Queen Square, London, UK. - - 2009
To investigate and correlate the frequency and types of pupil abnormalities that are associated with hereditary peripheral neuropathy in a large cohort of patients prospectively examined. A prospective study between 1998 and 2007. Patients were enrolled and examined after being seen in the neurology clinic. Data were collected on demographics, ...
Parulekar Manoj V - - 2008
To investigate whether ocular torsion and vertical misalignment differ in the upright vs supine position in skew deviation and to compare these findings with those in trochlear nerve palsy. Ten patients with skew deviation, 14 patients with unilateral peripheral trochlear nerve palsy, and 12 healthy subjects were prospectively recruited. With ...
Rajabally Yusuf A - - 2008
The association between demyelinating neuropathy and amyotrophic lateral sclerosis (ALS) has been reported rarely. We report four patients who presented with clinical features and investigations suggestive of a neuropathy but who later progressed and received a final diagnosis of ALS according to the original El Escorial criteria. Three patients met ...
Nishikawa Takuro - - 2008
We report a 13-year-old male patient with Charcot-Marie-Tooth disease (CMT) type 2 who developed severe neuropathy because of vincristine (VCR) for his acute lymphoblastic leukemia. A clumsy gait, muscle weakness in his fingers, and inverted champagne bottlelike muscle in the lower limbs were noticed after remission induction treatment for acute ...
Nebuchennykh M - - 2008
BACKGROUND AND PURPOSE: North American studies have indicated a high prevalence of impaired glucose tolerance (IGT) in patients with sensory polyneuropathy. We searched for the occurrence of IGT in a Norwegian patient material with polyneuropathy. METHODS: Seventy patients with symptoms and signs of sensory polyneuropathy were included. Cases with known ...
Erba P - - 2009
Neurocutaneous flaps have been demonstrated to be a reliable option in different groups of patients but it remains unclear if distally-based sural flaps can be safely used in paraplegic patients because they suffer from significant nervous system alterations. The aim of this proof-of-concept study is to demonstrate that these flaps ...
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