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Pure autonomic failure (PAF) is an alpha synucleinopathy with predominant involvement of the autonomic ganglia and peripheral nerves. The hallmark clinical feature is orthostatic hypotension. However, genitourinary, sudomotor, and cardiac involvement is also common. Many patients also develop supine hypertension. Almost a quarter of patients can phenoconvert or evolve into Parkinson's disease, multiple system atrophy, and Lewy body dementia in the future. Early severe bladder involvement, higher supine noradrenaline level, early motor involvement, and dream enactment behavior increase the risk of phenoconversion. The diagnosis is confirmed via autonomic function testing and serum noradrenaline measurement. The treatment is mainly supportive. The non-pharmacological treatment includes adequate fluid, dietary salt, compression stockings, and abdominal binders. The drug therapies to improve blood pressure include midodrine, fludrocortisone, pyridostigmine, and droxidopa. The diagnostic criteria need to be updated to incorporate the recent understandings. The treatment of orthostatic hypotension and supine hypertension is mainly based on case series and anecdotal reports. Randomized control trials are needed to ascertain the best treatment strategies for PAF.

BACKGROUND AND PURPOSE: The dopamine transporter scan or DaT scan is abnormal in presynaptic parkinsonism but normal in nondegenerative or postsynaptic parkinsonism. In this study, we tried to ascertain the impact of DaT scan on the diagnosis and clinical management and if the semiquantitative analysis of the DaT scans has any correlation with the clinical symptoms. METHODS: The electronic and nonelectronic records of patients of Plymouth Hospital NHS Trust, United Kingdom, from 2011 to 2015 were studied to find the indication, outcome, and the impact of the scan on the management of patients. The DaT scan results were assessed visually and semiquantitatively by the Department of Nuclear Medicine. The available data were statistically analyzed with the help of Microsoft XL2010 and GraphPad software. RESULTS: A total of 258 people had DaT scan. The scan results suggested an alternate diagnosis in 50.5% of clinically diagnosed patients with Parkinson disease. Similarly, DaT scan changed the diagnosis of 40% of patients with clinical diagnosis of vascular parkinsonism, 25% of clinically diagnosed drug-induced parkinsonism, and 54% of patients with possible Lewy body dementia. Visual assessment of the DaT scan revealed that more than 60% had grade 2 abnormalities. The distribution volume ratio, a semiquantitative tool for tracer uptake, was significantly less in the patients with akinetic-rigid subtype of Parkinson disease in comparison to a tremor predominant subtype. CONCLUSIONS: Dopamine transporter scan had a significant impact in diagnosis and management.

A 41-year-old man presented with complaints of a left sided headache and difficulty manipulating food in his mouth. Examination revealed signs of lower motor neuron palsies of ix, x, xi, and xii nerves. A CT angiogram showed a left sided ICA dissection and a subsequent MRI head with gadolinium contrast showed dissection with the subsequent hematoma causing compression of the cranial nerves that explained his symptoms and signs.

Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature.

Autosomal recessive hereditary spastic paraparesis is rare.We present 4 patients with slowly progressive predominantly lower limb spasticity and ataxia. Only one patient had family history of ataxia but without any underlying diagnosis. All of them proved negative for the mutation of Spinocerebelalr ataxia genes SCA 1,2,3 and 6. All had mutation in the SPG 7 gene suggestive of autosomal recessive hereditary spastic paraparesis. One of the heterozygous mutatnts showed a novel c1617delC ,p(Val540fs) frameshift mutation in exon 12 of the SPG 7 gene. SPG7 mutation accounts for 1.5-7% of all the HSP but it is the cause of undiagnosed ataxia in 18.6% in a recent case series. SPG7 mutation should be remembered as an important cause of undiagnosed ataxia especially where next generation sequencing is not widely avaialbale or affordable.

A 43-year-old man presented with ataxia and stiffness of lower limbs for approximately last 10 years. The clinical examination revealed bilateral parkinsonism The magnetic resonance imaging of the brain and spine showed no structural abnormality to explain his symptoms. However, the dopamine transporter scan showed abnormal tracer uptake in both basal ganglia, suggestive of degenerative parkinsonism. The next generation sequencing of spastic paraparesis gene panel revealed probably pathogenic novel mutation in the SPG7 gene. Though the exact mechanism of parkinsonism in SPG 7 mutation is unclear, mitochondrial dysfunction and oxidative stress seem to play a key role. SPG7 mutation should be considered as a cause of early onset degenerative parkinsonism when no alternative explanation can be found.

Impulsive-compulsive behavior (ICB) in Parkinson's disease (PD) suggests a combination of impulse control disorders (ICDs), such as pathological gambling, hypersexuality, compulsive eating, excessive buying, and compulsive behaviors, such as punding, dopamine dysregulation syndrome (DDS), hoarding, and hobbyism. Hypersexuality and gambling are common in male patients while compulsive buying is common in women patients. Recent studies reveal the prevalence of ICB to be more than 25% among the PD patients. The nigrostriatal, mesocortical, and mesolimbic dopaminergic pathways play a crucial role in the pathogenesis of ICDs in PD patients. The greater tonic release of dopamine creates a state of relative dopamine deficit and reduced reward sensation and impulsive behaviors. The major risk factors for ICB are the use of dopamine agonist (DA), male gender, young patient, depression, smoking, drug abuse, Parkin mutation, and family history of ICDs. Single nucleotide polymorphism in dopamine receptors D1, D2, and D3 also acts as a major risk factor. Questionnaire for impulsive-compulsive disorders in PD is the most widely adopted screening tool for the detection of ICB in PD. The major treatment for PD is to discontinue DAs and use prolonged release formulation of the DAs. The role of deep brain stimulation (DBS) and apomorphine in the treatment of ICB is still uncertain. Though DBS can reduce the risk of DDS, it can precipitate new ICBs such as hypersexuality.

Aims: We studied the referral practice, reporting standards, and the impact of 123 ioflupane single photon emission computed tomogram dopamine transporters (DAT-SPECT) scans conducted for the diagnosis and clinical management of patients. Settings and Designs: The present study was a retrospective, non-interventional study. Materials and Methods: We assessed the DAT scan referral and the official reports available from the Nuclear Medicine Department of the Mater Misericordiae University Hospital over 1 year (2013). We also assessed the impact of the DAT scan result on the management of patients by analyzing patient records. The European Association of Nuclear Medicine Neuroimaging (EANM) 2010 and the Federal Drug Administration (FDA) 2012 guidelines were taken as the standard against which the quality of our DAT scans reporting was assessed. Statistical Methods: Microsoft Excel 2010 and graphpad software were used for statistical analysis. Results: Twenty five (56.2%) out of a total of 48 DAT scans were performed to confirm early Parkinson's disease, 5 (8.9%) were done to exclude drug-induced parkinsonism, and 8 (14.3%) to distinguish essential tremor from parkinsonism; 2 scans were performed to distinguish Lewy body diseases from Alzheimer's dementia, and 4 indications were outside the recommended guidelines. Twelve out of the 26 (46%) abnormal scans had bilateral abnormalities. Twenty one out of the 25 DAT scans proved the clinical diagnosis of degenerative parkinsonism to be correct. Conclusion: The overall compliance of the DAT imaging with the existing standard guidelines was good. DAT scan can be very useful in clinical practice because it influences the clinical diagnosis and management in 23% of the patients.

Janus Kinase 2 (JAK2) protein controls the signal transduction of the erythropoietin, thrombopoetin, and related receptors that control erythrocyte and megakaryocyte expansion. A somatic mutation of JAK2-V617F in the exon 14 of the JAK2 gene (9p24) is the most common cause of myeloproliferative

Introduction: Our present observational study attempted to evaluate the clinical profiles, diagnosis, treatment and follow-up results of 51 pediatric neurocysticercosis patients over a mean duration of five years (from January 2006 to December 2010). Materials and Methods: Diagnosis was mainly based on clinical features, computed tomography (CT)/magnetic resonance imaging scan and exclusion of other causes. Patients with active, transitional cysts and seizure were treated with albendazole for 28 days, steroids and anticonvulsants. Results: A total of 38 patients completed this study. Mean age of the presentation was 8.47 ± 3.19 years 52.6% of the patients were female. Overall patients presented with generalized seizure in 55.3%, focal in 31.6%, headache ± vomiting in 63.2%, focal neurodeficit in 10.5% and combination of symptoms in 60.5% cases. Contrast CT brain showed a solitary lesion in 27 (71.1%) and multiple in the rest. At presentation lesions were transitional in 58.2%, inactive in 20% and mixed in 14.6%. After a mean of 2 years, seizure persisted in 9 (23.7%) and headache in 8 (21.1%) of whom six had normal electroencephalography (EEG) while one each showed focal slowing, generalized slowing and epileptiform discharges. During the follow-up, CT scan brain 44.7% lesions calcified, 31.6% disappeared, 10.5% regressed and the rest persisted. Conclusion: Solitary ring enhancing lesions (transitional stage) involving the parietal lobe was the commonest CT picture at presentation. Generalized tonic-clonic seizure was the most common type of seizure. Number of lesions, persistence of lesion, number of seizures, EEG abnormality at presentation were not found to be prognostically significant (P > 0.05).

This sign is observed in atypical parkinsonism mainly in Progressive Supranuclear Palsy. The exact mechanism of this sign is not clear but the contraction of the Corrugator Supercilii muscle is the most important factor for the generation of vertical forehead creases. Though the wrinkling of forehead is a complex phenomenon involving multiple muscles but the 'Corrugator sign' would be a better term to describe this phenomenon. Despite the controversies regarding the mechanism and nomenclature, the 'Procerus sign' remains an important clinical clue for early Progressive Supranuclear palsy.

A 48 year old female presented with headache and an illusory sensation of spinning of head in respect to environment for last 8 weeks. Her head spinning or vertigo had no particular direction or not precipitated by any specific head posture. Headache is non- specific in nature and intensified in last few days.Her neurological examination revealed a central positional vertigo with horizontal gaze evoked nystagmus and ataxia. Her MRI scan brain showed the presence of a large solitary ring enhancing lesion in the left cerebellar hemisphere. The lesion was surgically excised and was examined histopathologicaliy that revealed a chronic inflammatory granuloma with caseation necrosis and multinucleated giant cells suggestive of tuberculosis.

In this Teaching NeuroImage, Ferrer et al.1 described vertical gaze palsy and parkinsonism. Vertical gaze palsy, in this patient, is a consequence of compression of the mesencephalic rostral interstitial nucleus, the interstitial nucleus of Cajal, the posterior commissure, the periaqueductal gray matter, or interruption of the supranuclear inputs passing through the medial thalamus en route to the pretectal and prerubral areas.2,3 Though I agree that the most likely explanation of the bradykinesia and rigidity in this patient is secondary to midbrain compression and subsequent dopaminergic pathway degeneration,1 the authors did not demonstrate presynaptic dopaminergic pathway degeneration by SPECT imaging like dopamine transporters scan (DaT-SPECT scan) to support the hypothesis. More than 60%–70% of dopaminergic neurons degenerate before clinical signs of parkinsonism become evident. Though from the CT or MRI the extent of vascular lesions is not clear, significant frontal lobe atrophy is evident. Frontal lobe dysfunction or vascular parkinsonism can also lead to a clinically indistinguishable parkinsonism in this patient, so DaT scan would be helpful to identify the actual cause and management of his parkinsonism.4 Classically vascular or postsynaptic parkinsonism would give a normal DaT scan, but not nigrastriatal pathway degeneration secondary to compression by the giant perivascular or Virchow-Robin spaces.5

The interesting Teaching Video NeuroImage by Drs. Finlay and Yacovino1 demonstrated simultaneous soft palate and pharyngeal tremor and hypertrophic olivary degeneration (HOD). The palatal tremor is secondary to levator veli palatini contraction. The levator veli palatini is mainly supplied by the vagus nerve via the pharyngeal plexus. Most of the pharyngeal muscles are supplied by the vagus nerve, so simultaneous palate–pharyngeal tremor can be explained by the common nerve supply.

Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.

Silent thyroiditis is a rare cause of thyrotoxic periodic paralysis. The objective was to present a case of silent thyroiditis presenting as periodic paralysis. A 23-year-old man presented with recurrent acute flaccid predominantly proximal weakness of all four limbs. He had a similar episode 3 weeks back. On examination he was found to have hypokalemia secondary to thyrotoxicosis. Clinically there were no features of thyrotoxicosis or thyroiditis. He was initially treated with intravenous and later oral potassium supplementation and propranolol. At 8 weeks of follow-up his thyroid profile became normal and his propranolol was stopped. He had no further recurrence of paralysis. He was diagnosed as a case silent thyroiditis presenting as thyrotoxic periodic paralysis. In cases of recurrent or acute flaccid muscle paralysis, it is important to suspect thyrotoxicosis, even if asymptomatic. Definitive treatment of thyrotoxicosis prevents recurrence.

Introduction Successful Trainee Clinical Research Networks have been established since 2007. Our network in the peninsula, the SOuthwest Neurology Audit and Research Group (SONAR) is the first such Neurology trainee network in the UK. To enable development of cohesive collaborative working of the network we designed an audit which would be deliverable across three neurology centres within the peninsula. Method We audited management of suspected acute meningitis and meningococcal sepsis against national guidelines within a 4 week period in December. A standardised anonymsed data collation tool was used across the three centres and results were analysed at one centre. Results All 9 registrars on the rotation contributed to audit methodology design and data analysis; seven contributed cases (from all three centres). Ten cases were included in the audit, 6 (Exeter), 3 (Plymouth), and 1 (Truro). Our audit highlighted deficiencies in timely senior review, delivery of antibiotics and steroids, inappropriate administration of acyclovir and delay in lumbar puncture. Conclusion This was SONAR’s first collaborative project and demonstrated that as a group of trainees we can successfully conduct a project across multiple hospital sites. We plan to extend the scope and ambition of our future undertakings.

Objective: Poor documentation following lumbar puncture (LP) had always been a matter of concern. This study aimed to investigate the documentation pattern of neurology house officers, registrars (Regs), and specialist Regs following LP in a major teaching hospital. Materials and Methods: Total hundred patient records were examined in the light of a carefully designed proforma containing 15 important indicators of good-quality LP documentation. Result: Mean number of indicators overall documented by doctors was found to be 6.24 ± 3.0037. The mean number of indicators recorded by house officers was 5.11 ± 3.01 and Regs was 7.56 ± 3.28. A total of 33% LPs were performed without a documented consent. Only 36% performers documented the type and size of needle they used during the procedure. Only 46% documents revealed the strength and name of the local anesthetic used. Statistically significant difference between senior house officers and Regs in terms of numbers of indicators documented was noted. Conclusion : The documentation standard among neurology junior doctors remained poor.