New evidence and consensus has led to further revision of the McDonald Criteria for diagnosis of multiple sclerosis. The use of imaging for demonstration of dissemination of central nervous system lesions in space and time has been simplified, and in some circumstances dissemination in space and time can be established by a single scan. These revisions simplify the Criteria, preserve their diagnostic sensitivity and specificity, address their applicability across populations, and may allow earlier diagnosis and more uniform and widespread use.

/pdf/diagnostic-criteria-for-multiple-sclerosis-2010-revisions-to-24iph50480.pdf

Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria

New diagnostic criteria for multiple sclerosis integrating magnetic resonance image assessment with clinical and other paraclinical methods were introduced in 2001. The "McDonald Criteria" have been extensively assessed and used since 2001. New evidence and consensus now strengthen the role of these criteria in the multiple sclerosis diagnostic workup to demonstrate dissemination of lesions in time, to clarify the use of spinal cord lesions, and to simplify diagnosis of primary progressive disease. The 2005 Revisions to the McDonald Diagnostic Criteria for MS should simplify and speed diagnosis, whereas maintaining adequate sensitivity and specificity.

https://www.onlinelibrary.wiley.com/doi/epdf/10.1002/ana.20703

Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria".

https://www.hopkinsmedicine.org/neurology_neurosurgery/research/labs/als_center/_docs/rothstein_c9orf72.pdf

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

2D\n: two-dimensional\n99mTc-DPD\n: 99mTechnetium-3,3-diphosphono- 1,2-propanodi-carboxylic acid\nACE\n: angiotensin-converting enzyme\nAF\n: atrial fibrillation\nAL\n: amyloid light chain\nAR\n: aortic regurgitation\nARB\n: angiotensin receptor blocker\nATTR\n: amyloidosis-transthyretin type\nAV\n: atrioventricular\nBiVAD\n: biventricular assist device\nBNP\n: brain natriuretic peptide\nBPM\n: Beats per minute\nCCS\n: Canadian Cardiovascular Society\nCFC\n: cardiofacialcutaneous\nCHA2DS2-VASc\n: Congestive Heart failure, hypertension, Age ≥75 (doubled), Diabetes, Stroke (doubled), Vascular disease, Age 65–74, and Sex (female)\nCMR\n: cardiac magnetic resonance\nCRT\n: cardiac resynchronization therapy\nCRT-D\n: cardiac resynchronization therapy-defibrillator\nCRT-P\n: Cardiac resynchronization therapy with a pacemaker\nCT\n: computed tomography\nDC\n: direct current\nDNA\n: deoxyribonucleic acid\nE/A\n: ratio of mitral peak velocity of early filling (E) to mitral peak velocity of late filling (A)\nE/e’\n: ratio of early transmitral flow velocity (E) to early mitral annulus velocity (e’)\nEACTS\n: European Association for Cardio-Thoracic Surgery\nECG\n: electrocardiogram\nEF\n: ejection fraction\nEPS\n: electrophysiological study\nESC\n: European Society of Cardiology\nFDA\n: (US) Food and Drug Administration\nFHL1\n: four and a half LIM domains 1\nHAS-BLED\n: hypertension, abnormal renal/liver function, stroke, bleeding history or predisposition, labile INR, elderly (>65 years), drugs/alcohol concomitantly\nHCM\n: hypertrophic cardiomyopathy\nhs-cTnT\n: high sensitivity cardiac troponin T\nHTS\n: high throughput sequencing\nICD\n: implantable cardioverter defibrillator\nILR\n: implantable loop recorder\nINR\n: international normalized ratio\nIUD\n: intrauterine device\nLA\n: left atrium\nLAMP-2\n: lysosome-associated membrane protein 2\nLBBB\n: left bundle branch block\nLEOPARD\n: Lentigines, ECG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and sensory-neural Deafness\nLGE\n: late gadolinium enhancement\nLV\n: left ventricular\nLVAD\n: left ventricular assist device\nLVH\n: left ventricular hypertrophy\nLVOTO\n: left ventricular outlow tract obstruction\nMADIT-RIT\n: Multicenter Automatic Defibrillator Implantation Trial—Reduce Inappropriate Therapy\nMAPK\n: mitogen activated protein kinase\nMELAS\n: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes\nMERFF\n: myoclonic epilepsy with ragged red fibres\nMRA\n: mineralocorticoid receptor antagonist\nMYBPC3\n: myosin-binding protein C, cardiac-type\nMYH7\n: myosin-7 (s-myosin heavy chain)\nMYL3\n: myosin light chain 3\nNOAC\n: new oral anticoagulants\nNSVT\n: non-sustained ventricular tachycardia\nNT-proBNP\n: N-terminal pro brain natriuretic peptide\nNYHA\n: New York Heart Association\nOAC\n: oral anticoagulants\no.d.\n: omni die (every day)\nPC-CMR\n: phase contrast cardiac magnetic resonance\nPDE5\n: phosphodiesterase type 5\nPET\n: positron emission tomography\nPRKAG2\n: gamma-2 sub-unit of the adenosine monophosphate-activated protein kinase\nRAAS\n: renin angiotensin aldosterone system\nRV\n: right ventricular\nSAM\n: systolic anterior motion\nSCD\n: sudden cardiac death\nSAA\n: septal alcohol ablation\nS-ICD™\n: Subcutaneous lead implantable cardioverter defibrillator\nSPECT\n: single photon emission computed tomography\nSSFP\n: steady-state free precession\nSVT\n: supraventricular tachycardia\nTOE\n: transoesophageal echocardiography\nTNNI3\n: troponin I, cardiac muscle\nTNNT2\n: troponin T, cardiac muscle\nTPM1\n: tropomyosin alpha-1 chain\nTTE\n: transthoracic echocardiography\nTTR\n: transthyretin\nVF\n: ventricular fibrillation\nVKA\n: vitamin K antagonist\nVT\n: ventricular tachycardia\nWHO\n: World Health Organization\n\nGuidelines summarize and evaluate all available evidence at the time of the writing process, on a particular issue with the aim of assisting health professionals in selecting the best management strategies for an individual patient, with a given condition, taking into account the impact on outcome, as well as the risk-benefit-ratio of particular diagnostic or therapeutic means. Guidelines and recommendations should help the health professionals to make decisions in their daily practice. However, the final decisions concerning an individual patient must be made by the responsible health professional(s) in consultation with the patient and caregiver as appropriate.\n\nA great number of Guidelines have been issued in recent years by the European Society of Cardiology (ESC) as well as by other societies and organisations. Because of the impact on clinical practice, quality criteria for the development of guidelines have been established in order to make all decisions transparent to the user. The recommendations for formulating and issuing ESC Guidelines can be found on the ESC website (http://www.escardio.org/guidelines-surveys/esc-guidelines/about/Pages/rules-writing.aspx). ESC Guidelines represent the official position of the ESC on a given topic and are regularly updated.\n\nMembers of this Task Force were selected by the ESC to represent professionals involved with the medical care of patients with this pathology. Selected experts in the field undertook a comprehensive review of the published evidence for management (including diagnosis, treatment, prevention and rehabilitation) of a given condition according to ESC Committee for Practice Guidelines (CPG) policy. A critical evaluation of diagnostic and therapeutic procedures was performed including assessment of the risk-benefit-ratio. Estimates of expected health outcomes for larger populations were included, where data exist. The level of evidence and the strength of recommendation of particular management options were weighed and graded according to predefined scales, as outlined in Tables 1 and 2 .\n\nThe experts of …

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)

Summary Neuromyelitis optica (also known as Devic's disease) is an idiopathic, severe, demyelinating disease of the central nervous system that preferentially affects the optic nerve and spinal cord. Neuromyelitis optica has a worldwide distribution, poor prognosis, and has long been thought of as a variant of multiple sclerosis; however, clinical, laboratory, immunological, and pathological characteristics that distinguish it from multiple sclerosis are now recognised. The presence of a highly specific serum autoantibody marker (NMO-IgG) further differentiates neuromyelitis optica from multiple sclerosis and has helped to define a neuromyelitis optica spectrum of disorders. NMO-IgG reacts with the water channel aquaporin 4. Data suggest that autoantibodies to aquaporin 4 derived from peripheral B cells cause the activation of complement, inflammatory demyelination, and necrosis that is seen in neuromyelitis optica. The knowledge gained from further assessment of the exact role of NMO-IgG in the pathogenesis of neuromyelitis optica will provide a foundation for rational therapeutic trials for this rapidly disabling disease.

/pdf/the-spectrum-of-neuromyelitis-optica-1apj94f51h.pdf

The spectrum of neuromyelitis optica

The objective of this review is to analyze the actual scientific controversy on chronic cerebrospinal venous insufficiency (CCSVI) and its association with both neurodegenerative disorders and multiple sclerosis (MS). We revised all published studies on prevalence of CCSVI in MS patients, including ultrasound and catheter venography series. Furthermore, we take into consideration other publications dealing with the pathophysiologic consequences of CCSVI in the brain, as well as ecent data characterizing the pathology of the venous wall in course of CCSVI. Finally, safety and pilot data on effectiveness of endovascular CCSVI treatment were further updated. Studies of prevalence show a big variability in prevalence of CCSVI in MS patients assessed by established ultrasonographic criteria. This could be related to high operator dependency of ultrasound. However, 12 studies, by the means of more objective catheter venography, show a prevalence >90% of CCSVI in MS. Global hypoperfusion of the brain, and reduced cerebral spinal fluid dynamics in MS was shown to be related to CCSVI. Postmortem studies and histology corroborate the 2009 International Union of Phlebology (UIP) Consensus decision to insert CCSVI among venous malformations. Finally, safety of balloon angioplasty of the extracranial veins was certainly demonstrated, while

Vascular Diseases Center, University

Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.025). This finding is consistent with current literature, as parkin levels were found to be decreased in ALS animal models and patients. Our results confirm the possible role of PD-related genes as risk modifier in ALS pathogenesis.

https://www.mdpi.com/2073-4425/13/8/1306/pdf?version=1658890297

Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study

Non-invasive identification of senile systemic amyloidosis: incremental diagnostic role of 99mtc-dpd scintigraphy

BACKGROUND
Early diagnosis of a treatable disease such as familial amyloid polyneuropathy (FAP) due to mutations of the transthyretin (TTR) gene is important. The aim of this work is to report a series of six patients with amyloid polyneuropathy characterized by a lower motor neuron-like onset.
CASE REPORT
We present six patients with HA-TTR related to different TTR mutations: their main clinical features were the long time between onset of neuropathy and definite diagnosis (3-16 years, mean 8.6), incorrect treatment and early dominant motor involvement, mimicking motor neuron disease. All patients presented early features of lower motor neuron involvement with no pyramidal signs, and distal tactile and thermo-dolorific sensory loss. Diffuse areflexia was the rule. Cranial nerve involvement, with fasciculation of the tongue and facial myokymia and hyposthenia, was evident in three cases. Clinical or instrumental signs of autonomic dysfunction were present in all patients, but the severity of dysautonomia was variable. Cardiac involvement was present in one patient. All our patients fitted the needle EMG criteria for lower motor neuron disease, not so with the nerve conduction criteria for ALS diagnosis: they all developed marked sensory-motor axonal neuropathy with severe progressive reduction of SAP and cMAP amplitudes. The alteration of sensory conductions was not justified by any identified peripheral nervous system diseases.
CONCLUSIONS
Axonal sensorimotor polyneuropathy with dysautonomia is not the only pattern of neurophysiological presentation of HA-TTR. The clinical and neurophysiological heterogeneity of TTR neuropathy may reflect variability of the amount and distribution of amyloid deposits in the skin, nerves, nerve roots and central nervous system. In our patients, the unusual disease presentation was mistaken for untreatable diseases such as amyotrophic lateral sclerosis, delaying diagnosis of FAP by many years. We suggest the utility to search for TTR mutations in all subjects presenting with atypical lower motor neuron disease. Disclosure: Dr. Salvi has received research support from the Fondazione Hilarescere. Dr. Rosaria has nothing to disclose. Dr. Pastorelli has nothing to disclose. Dr. Rapezzi has received research support from Pfizer Inc.

Familial Amyloid Polyneuropathy Presenting As Atypical Lower Motor Neuron Disease: A Case Report (P4.091)

MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of Foix-Chavany-Marie syndrome in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, mental retardation and seizures.

Fabrizio Salvi

Papers

Vascular Diseases Center, University

Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study

Non-invasive identification of senile systemic amyloidosis: incremental diagnostic role of 99mtc-dpd scintigraphy

Familial Amyloid Polyneuropathy Presenting As Atypical Lower Motor Neuron Disease: A Case Report (P4.091)

MRI of congenital Foix-Chavany-Marie syndrome.