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This Concept Map, created with IHMC CmapTools, has information related to: CNS II - degen, demyelin, IEMs, CNS II IEMs PELIZAEUS-MERZBACHER DZ-X-linked -leukodystrophy -proteolipid protein defects (in CNS myelin) -myelin almost all gone, "tigroid" if patches left behind, CNS II Spinocerebellar Degenerations -AD inheritance -lots of CAG repeat-association ATAXIA-TELANGIECTASIA-AR -begins in kids -ataxic, dyskinetic -CBLM neuronal degeneration -telangiectasias in conjunctive, skin -11q22 locus-ATM gene- 1% carrier freq -can increase Br CA risk MORPH-lose Purkinje, granule cells -degenerated tracts, AHCs -periph neuropathy -AMPHICYTES-enlarged nucs in multiorgan cells -LN, thymus, gonadal hypoplastic CLINICAL-death in 10s -recurrent sinopulm infx, ataxia -speech, eye problems -can->TCell Lymphoma/Leuk, gliomas, CA, CNS II Degenerative Dzs of Basal Ganglia, Stem ->mvmt d/os IDIOPATHIC PARKINSON DZ (PARALYSIS AGITANS) -loss of DA nn in nigra compacta -acute in MPTP exposure -AD inheritance-alpha-synuclein -in Lewy body (also in Alz plaques) MORPH-Lewy bodies in sub nigra -w/ synuclein, ubiquitin -and basal nuc of Meynert (ACh) CLINICAL-10-15%->dementia -some from Alz, some from Lewy Bodies, CNS II Degenerative Dzs of Cortex -progressive, selective neuron loss -2ndary wt matter changes PICK DZ-lobar atrophy -early behavior, personality changes, language problems MORPH-asymmetric atrophy -NOT post. 2/3 of brain -PICK cells-do not survive death to act as markers, CNS II IEMs KRABBE DZ-AR leukodystrophy -def in GALACTOCEREBROSIDE B-GALACTOSIDASE ->alt. catabolic pathway ->GALACTOSYLSPHINGOSINE -toxic to oligodendrocytes Onset-3-6mos, dieɚyo MORPH-GLOBOID CELLS -multinuc macs around blood cells, CNS II Demyelinating Dzs MS VARIANTS Neuromyelitis optica (DEVIC) -ASIANS-rapidly progressive -more destructive Acute MS (MARBURG FORM) -young -fulminant over months -large, numerous plaques -widespread destruction, CNS II Motor Neurons BULBOSPINAL ATROPHY (KENNEDY SYNDROME) -X-linked - in adults-CAG repeats -distal limb amyotrophy -atrophy, dysphagia, tongue fasc. -ANDROGEN insensitivity -gynecomastia, testic atrophy, oligospermia -degenerated lower motor nns, CNS II Degenerative Dzs of Cortex -progressive, selective neuron loss -2ndary wt matter changes ALZHEIMER DZ -3% of , 19%ᢃ, 47%ᢍyo -Trisomy 21-hits all by 45yo -most common cause of dementia -insidious impairment of higher fcn ->mood changes -later->disorientation, mem loss, aphasia -5-10yrs-disabled, mute, immobile MORPH-cortical atrophy, wide sulci -esp frontal, temp, parietal lobes -ventricular enlargement -neurofib tangles-flame-shaped -filaments engulf nucleus -ABNL TAU protein -survive death-markers of AD -senile (neuritic) plaques -amyloid core-amyloid beta -from Am Precursor Protein APP -gene on chrom 21-familial -amyloid angiopathy-also from APP -granulovacuolar degeneration -Hirano bodies Familial- presenilins-1 and -2 chroms 14, 1 -muts-> more amyloid -role in cell death? ApoE-bind A-beta in plaques, CNS II IEMs CANAVAN DZ - AR -spongy degeneration of wt matter -Alzheimer type II cells -deficient ASPARTOACYLASE ACTIVITY, CNS II IEMs LEIGH DZ-mito-AR -lactic acidemia -psychomotor development arrest -feeding problems -Szs, extraocular palsies -hypotonia, death at 1-2yo -defects in pyruvate->ATP conversion -proliferating vessels -multifocal brain destruction lesions, CNS II Demyelinating Dzs MARCHIAFAVA-BIGNAMI DZ -symmetric dmg to corpus call, ant commissure -central fiber dmg, CNS II IEMs MERRF-mito-MATERNAL -Myoclonic Epilepsy and RRF -myopathy -mutation of mtDNA gene -altered fcn of oxidation complexes, CNS II Degenerative Dzs of Basal Ganglia, Stem ->mvmt d/os MULTIPLE SYSTEM ATROPHY -glial cytoplasmic inclusions -in oligos cytoplasm -different from other d/os inclusions Syndromes: STRIATONIGRAL DEGENERATION -sim to IPD, but resistant to L-dopa -caudate , putamen atrophy -NO lewy bodies SHY-DRAGER SYN-extrapyramidal syn -autonomic: ortho hypoTN, impotent, sweat, saliv problems, pupil ABNL -degen of INTERMEDIOLATERAL COL nn. in cord, some w/ Lewy bodies OLIVOPONTOCEREBELLAR ATROPHY -ataxia, eye, somatic mvmt ABNLities -dysarthria, rigidity -most AD, some AR, some sporadic -shrunken BASIS PONTIS -depleted Purkinje cells -2ndary inf. oliv degeneration, CNS II Demyelinating Dzs MULTIPLE SCLEROSIS -WOMEN 20-50s -1:1000 US -flare-ups last days-wks -frequency decreases over time -correlated to distance from equator -HLA-DR2 linkage MORPH-find gray-tan irreg plaques -on cord, stem -firmer than surrounding (sclerosis) -large in centrum semiovale -preserve axons, deplete oligos -inflam in "active plaques" -inactive plaque-gliosis, little myelin -SHADOW PLAQUES CLINICAL-unilateral vision defects -acute optic neuritis -10-50%->MS -brain stem involvement-ataxia, nystagmus, etc. CSF-high proteins, pleocytosis (1/3) -oligoclonal bands -B cells in CNS->high Ig, CNS II Demyelinating Dzs CENTRAL PONTINE MYELINOLYSIS -lose myelin symmetrically -pons, pontine tegmentum -NOT periventricular, subpial -rapid quadriplegia Settings: alcoholism, 'lyte problems, orthotopic liver xplant -rapid hyponatremia correction?, CNS II Demyelinating Dzs ACUTE DISSEMINATED ENCEPHALOMYELITIS (ADEM) -follows viral infx or vax -1-2 wks after -HA, lethargy, coma -not focal (MS) -FAST-death in 20% -complete remission in others MORPH-grayish around vessels -PMNs->lymphos->macs -acute autoimmune to myelin, CNS II Spinocerebellar Degenerations -AD inheritance -lots of CAG repeat-association FRIEDREICH ATAXIA -AR, progressive-chrom 9q13 -GAA repeats in "frataxin" 1st decade-gait ataxia, hand clumsiness, dysarthria -depressed DTRs -present entensor plantar reflex -position/vib sense impairment -loss of pain/temp/discrimination ->pes cavus, kyphoscoliosis -10% w/ DM, high cardia dz risk MORPH-gliosis, loss of axons in post. columns, corticospinal, spinocerebellar tracts -degenerated neurons-sp cord, CN 8, 10, 12 nuclei, CBLM -enlarged heart, pericardial adhesions, CNS II IEMs ADRENOLEUKODYSTROPHY-X-linked -early school age-neuro Sx, adrenal insuff -rapidly progressive, fatal -slower in adults -ALD gene -can't catabolize VLCFAs in peroxisomes ->lose myelin, preserve subcortical U fibers -gliosis, lymphocytic inflammation -VLCFAs accumulation in remaining ad cortex, CNS II Motor Neurons SPINAL MUSCULAR ATROPHY -on periph NS map, CNS II Degenerative Dzs of Basal Ganglia, Stem ->mvmt d/os CORTICOBASAL DEGENERATION -elderly -extrapyramidal rigidity, jerking limbs -sensory cortical dysfcn (apraxias, lang) -cog decline late, only in some cases -atrophy of motor, premotor, parietal lobes -gliosis, ballooned neurons,