Wfusm Neuro Motor Pathology

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In muscle pathology pyknotic nuclear clumps are seen

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in atrophic muscle fibers that hae been denervated

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Describe 2 forms of toxis myopathies

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HMC CoA reductase inhibitors (statin drugs) and cause necrotizing myopathy

Steriods can cause proixmal muscle weakness with type 2 fiber atrophy

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Is segmental necrosis a sign of myopathy or denervation?

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Mypotaphy

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Genetics of Duchenne MD

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x linked recessive at gene Xp21

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syptoms at 3-5 years, weakness, calf hypertrophy and increased serum CK are consistent with

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Duchenne MD

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Describe pathological changes during Duchenne

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Variation in fiber size, round atrophy, muscle fiber

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Genetics of Myotonic MD

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Autosomal Dominant CTG repeat for DMPK gene

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Myotonic dystrophy is common in and is a ___ disease

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common presenting in adults it is multisystem with cardiomyopathy, ocular cataracs and endocrinopathy

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This disease is the exception to the rule that genreally muscle diseases present with proximal muscle weakness

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Myotonic MD presents with distal weakness

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Does Myotonic MD involve Cranial Muscles?

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Yes, you see ptosis, facial weakness, and dysphagia

characteristic facial droop

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Patients that show impaired relaxation evident in hands especially usually have this disease

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Myotonia MD

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What happens to myonia when curare given?

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it still persists. curare blocks nueromuscular transmission

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An EMG that shows waxing and waning high-frequency discharge that continues after relaxation is diagnositic for

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myotonia

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Nemaline rods or centronuclear muscle fibers may be found in

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congenital myopathy

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Lipid storage myopathy is due to dificiency in

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carnitine, acyl-CoA dehydrogenase or carnitine palmitoyltransferase

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Exercise intolerance, cramps, and myoglobinuria is usually associated with

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defects in enzyme glycogen metabolic pathway

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Most common glycogen storage disease

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myophosphorylase deficiency (McArdles disease)

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Polymyositis presents with what onset

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subacute weakness nadir in months after age 35 typically

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Proximal muscle weakness, dyspahgia, NO rash, and responds to steriods

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Polymyositis

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A polymyositis biopsy would show

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Mononuclear cell infiltrate with CD8+ T cells and macrophages

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This disorder occurs at all ages, severe weakness, present rash, and can be associated with cancer if patient is over 40

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Dermatomyositis

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Describe the skin changes in Dermatomyositis

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lilac discoloration of eyelids, periorbital edema, scaly red patches on knuckles

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Perifasicular atrophy on biopsy is associated with

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Dermatomyositis

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What type of immune cells are found in Dermatomyositis?

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Lymphocytes are B cells and CD4+ T cells

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This is likely to affect distal muscles, seen in older men, no rash, does not respond to steriods

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Inclusion Body Myositis

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Immune cells found with inclusion body mysitis

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CD8+ T cells

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The electrophysical exam shows progressive decrement in amplitude of muscle action potention with repetitive nerve stimulation

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Myasthenia Gravis

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If a muscle biopsy were done of a Myasthenia Gravis patient, you would see

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type 2 fiber atrophy

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This disease causes weakness and difficulty walking that improves with effort

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Lambert-Eaton Myasthenic Syndrome

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Wallerian Degeneration is ___

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transection of an axon
have a breakdown of myelin
Nissl substance disperses ("central chomatolysis"

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Usual nerve biopsied

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Sural

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Genetics of Amyloidosis and pathology

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autosomal dominant, amyloid deposits cause axonal degeneration and sensory/autonomic neuropathies

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Acute inflammatory demyelinating polyradiculoneuropathy is

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Guillain-Barre Syndrome

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In this inflammatory neuropathy symmetrical weakness is observed and reflexes are lost after first few days autonomic dyfunction is common

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Guillain-Barre Syndrome

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Protein peak in the CSF and electrophysical finding of demyelination is characteristic of

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Guillain-Barre

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Repeated episodes of demyelination and remyelination results in ___ formations and causes include

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onion bulb formations
diabetes melitus, chronic inflammatory demyelinating polyneuropathy

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Most common hereditary neuropathy

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type 1 Charcot-Marie-Tooth hypertrophic form

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This is a distal symmetric polyneuropathy that can show mononeuropathy in CN III and is due to axonal degeneration

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Diabetic Neuropathy

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In Diabetic Neuropathy you lose ___ before ___

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pain and temperature before proprioception and vibration

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excitotoxicity comes from excessive ____

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gluaminergic stimulation resulting in neuronal death

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With glutaminergic stimulation, excessive __ enters cell and stimulates

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calcium and stimulates second messenger systems

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Amyotrophic lateral sclerosis involves UMN or LMN?

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Both UMN and LMN you see muscle atrophy and gliosis of lateral corticospinal tracts

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Spinal Muscular Atrophy usually due to UMN or LMN lesion

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LMN alone

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With this disease both UMN and LMN involved, hyperreflexia and Hoffmann sign, weak fasciculating muscles, dysarthiria

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ALS

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Asymmetric weakness of hand is a common presentation in ___ along with foot drop and spasticity

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ALS

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What is usually intact in ALS?

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Sensation, bladder function, and eye movements

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What can be a genetic contribution to ALS in 20% of familial cases?

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mutation in superoxide dismutase 1

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What type of drug is Riluzole (Rilutek)

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glutamate anatagonist can prolong life 3-5 months in ALS

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In ALS see pallor in which locations of spinal tracts?

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Lateral and Anterior corticospinal

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What are Bunina bodies?

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lysosomal proteinase inhibitor found when looking for inclusion bodies in motor neurons of ALS patients

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In ALS spinal motor neurons may balloon due to

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accumulation of phosphorylated neurofilaments

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What are genetics of Kennedys Disease and pathology

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X-linked increased CAG repeats of androgen receptor gene
spinobulbar muscular atrophy
progressive LMN weakness of facial, and proximal limb muscles

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Genetics of Spinal Muscular Atrophy

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Locus on Chromosome 5, autosomal recessive
only involves LMN

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Werdnig-Hoffman is

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SMA type 1 severe infantile form

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Ago of onset and clinical findings in Werdnig Hoffman Disease

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onset between birth and 6 months, hypotonia frog-leg, tongue fasiculations, weak respiration
most die before 2 years

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A muscle biopsy is usually performed for this fatal disease and finds rounded atrophic fibers involving entire fasicle

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Werdnig-Hoffman

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What is Synuclein

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a protein found in synpatic terminals and nuclear envelope

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Synucleinopathies lewy body diseases include

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Parkinson's and Dementia

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Bradykinesia, rigidity, resting tremor, postural instability are findings with what syndrome

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parkinsonism

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Drugs that can cause parkinsonism syndromes

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Dopamine antagonists, calcium channel blockers, lithium

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Loss of pigmentation in the substantia nigra is a finding in

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Parkinson's Disease

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What are Lewy Bodies made of?

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Functional proteins- NFP, Ubiquitin, alpha synuclein, kinases

Incorporated Proteins- tubulin, Beta amyloid, synaptic proteins

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Describe Classical and Cortical Lewy Bodies

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Classical- spherical with eosinophilic core and pale halo

Cortical- small neurons, lack halo only seen in dementia

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Multiple System Atrophy has these main clinical features

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Bradykinesia, Gait ataxia, orthostatic hypotension, urinary incontinence, erectile dysfunction

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Parkinsonism but poor response to levodopa may be

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Multiple system atrophy

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What suggests MSA over PD?
6 clinical findings-

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poor response levodopa
rapid progression
rigidity out of proportion
speech severely affected
abnormal aspiration and stridor
absence of dementia

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MSA has a gross finding of pallor of __ and __ and discoloration of ___

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SN and LC with discoloration of putamen

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Why doesn't MSA respond to levodopa?

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The striatum is involved

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Microscopically MSA displays this main cytologic abnormality

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Glial Cytoplasmic inclusions

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Papp-Lantos inclusions refer to

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the glial cytoplasmic inclusions of MSA

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Name 3 neurodegenerative diseases associated with parkinsonism and are tauopathies

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Progressive supranuclear pasla
Corticobasal Dengeration
Post-encephalitic parkinsonism

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What is tau

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microtubule-associated protein that is active in distal axons

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What occurs as a result of hyperphosphorylation of tau

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self assembly tangles of paired helical filaments and straight filaments

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Progressive akinetic rigidity, down gaze affected, slow vertical saccades, postural instability, apathy and impaired memory are findings in

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PSP

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Compared to PD PSP has what onset of symptoms

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symmetric symptoms, does have cogwheel rigidity but tremor is uncommon

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Pathology of PSP shows

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fibrillary tau pathology with neurofibrillary tangles and straight filaments

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Corticobasal Degeneration shows what gross and microscopic findings

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depigmentation of SN and locus ceruleus
neuronal achromasia, filamentous tau inclusions in glia and neurons (ubiquitin negative)

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Wilson's disease genetics and description

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autosomal recessive, copper accumulation in tissues

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Wilson's first presents as ___ then what kind of movement disorder occurs

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Liver disease followed by extrapyramidal movement disorder and dementia

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Huntington's, Kennedy's, and Fredreich's ataxia are all

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Trinucleotide Repeat Diseases

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Genetics of HD

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autosomal dominant chromosome 4p16.3

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Gross finding in Huntington's

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Atrophy of neostriatum

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Huntington's affects substance p or encephalin neurons?

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encephalin

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What is the pathology of Friedreich's Ataxia

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it is a proressive spinocerebellar ataxia, protein frataxin causes iron accumulation and free radical damage

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Ataxia, arefleia, Babinski, pes cavus are findings with

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Friedreich's Ataxia

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FA the spinal cord is thin and there is a loss of axons in

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posterior column, corticospinal tract, spinocerebellar tract