Presentation on theme: "Amyotrophic Lateral Sclerosis"— Presentation transcript:
1 Amyotrophic Lateral Sclerosis Ali Nasim MDFellow, Neuroradiology Division at UNC
2 What is ALS? A-myo-trophic = no-muscle-nourishment Lateral Sclerosis refers to involvement of the lateral corticospinal tracts.ALS is a degeneration of somatic motor neurons extending from upper motor cortical pyramidal neurons to lower motor neurons of the brainstem and cord.
3 History of ALSFirst described in publication by Dr. Jean-Martin Charcot, in Paris.Lectures translated into English
5 ALS: Clinical Findings Types:Classic - UMN and LMNOnly UMN or only LMNPredominantly bulbar form - worse prognosisFamilial %5600 cases per year in the US, y/o, M:F 2:1
6 ALS: Clinical Findings Progresses distal to proximal, with complete disability within 10 yrs20% of patients survive >5 yrsFamilial and juvenile onset survive yrs after diagnosis
7 ALS: Clinical Findings Revised El Escorial World Federation of Neurology criteria:Evidence of LMN degeneration by clinical, electrophysiological, or neuropathological examinationEvidence of UMN degeneration by clinical examinationProgressive spread of symptoms or signs within a region or to other regions (The body is divided into four regions: cranial, cervical, thoracic and lumbosacral)Absence of electrophysiological, pathological or neuroimaging evidence of other disease processes.
8 ALS: Imaging Findings Can have normal imaging Focal atrophy in chronic casesT2/FLAIR hyperintensity extending along the corticospinal tract from corona radiata to the brainstemContrast enhancement - ?Deposition of iron in affected cortex
9 ALS: Imaging FindingsEarly unilateral (left) ALS involvement in a patient with associated callosal agenesis.
11 Enhancement is atypical but occasionally seen. ALS: Imaging FindingsEnhancement is atypical but occasionally seen.
12 Bilateral high T2 signal in corticospinal tracts. ALS: Imaging FindingsBilateral high T2 signal in corticospinal tracts.
13 ALS: Imaging FindingsIncreased iron (low T2 signal) deposition in the gray matter of the peri-Rolandic regions which underlying high signal in the white matte and dilatation of the adjacent cortical sulci.
14 ALS: Imaging FindingsFLAIR images shows high signal in the cortico-spinal tracts due to Wallerian degeneration.
15 ALS: Imaging Findings MR Spectroscopy: Decreased NAA/Cr ratio Increased choline and myoinositolDecreased glutamate in the precentral gyrus and peri-rolandi white matter
16 ALS: Pathology Loss of cortical pyramidal motor neurons and gliosis Corticospinal tracts with variable patterns of degenerationPrecentral gyrus atrophy
17 ALS: Pathophyiology Cause of Spontaneous ALS unknown Single gene mutations can lead to selective motor neuron lossGlutamate excitotoxicity (etiology unknown)
18 ALS: Pathophyiology Familial ALS: Copper/Zinc Superoxide dismutase (SOD1)gene mutation found to be associated with 20% of familial ALSGain of function mutation
19 ALS: Interesting InfoReports of populations with increased incidence, most notably the Chamarro people of Guam (ALS-PCD)Incidence ranging cases / 100,000 (nml cases/ 100,00)Recent theory is that this was due to bat consumption and exposure to BMMA excitotoxins.
20 ALS: Notable People Affected Lou Gehrig Stephen Hawking Jon Stone
21 ALS: Treatment Riluzole - glutamate release inhibitor -Has been shown to increase NAA/Cr ratioSymptom treatment - ventilation, anti-spastic medications
22 ReferencesKalra, S. et al, Neuroimaging in Amyotrophic Lateral Sclerosis. ALS and Other Motor Neuron Disorders :Kalra, S. et al, Gabapentin Therapy for Amyotrophic Lateral Sclerosis: Lack of Improvement in Neuronal Integrity Shown by MR Spectroscopy AJNR, Mar 2003; 24:Bowen, B. , MR Imaging and Localized Proton Spectroscopy of the Precentral Gyrus in Amyotrophic Lateral Sclerosis AJNR, Apr 2000; 21:statDx.comarchives.orgathiestnexus.orgsabine.k12.la.usmuppet.wikia.com