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Corticobasilar ganglionic degeneration
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- Cerebellar degeneration
- Restless Leg Syndrome
- Idiopathic Dystonia
- Primary demyelinating diseases
Corticobasilar ganglionic degenerationParkinsonism, apraxia (alien hand syndrome) Progressive subcortical gliosisPersonality changes, inappropriate behavior Progressive supranuclear palsy Parkinsonism, opthalmoplegia, psychomotor slowing Cerebellar degenerationFamily history (AD), ataxia, psychomotor slowing, emotional lability Olivopontocerebellar atrophyFamily history (AD or AR), ataxia, eye-movement disorders, executive dysfunction Motor Neuron Disease Amyotrophic lateral sclerosis (ALS) (Lou Gehrig’s Disease) [NEJM] Affects motor neurons of cortex, brainstem, spinal cord Presentation: asymmetrical, slowly progressive / may present with fasciculations Upper motor neuron: spasticity, increased DTR’s, (+) Babinski Lower motor neuron: fasciculations, loss of DTR’s, flaccid paralysis, muscle weakness, muscle atrophy, (-) Babinski Diagnosis: combination of U and L motor neuron findings in 3 or more extremities (after ruling out other considerations) EMG would show widespread denervation, fibrillation potentials with preserved nerve conduction velocity, normal sensory Ddx: spondylotic cervical myopathy, syringomyelia, neoplasms, demyelinating diseases, benign fasciculations, polio, hypothyroidism, hyperparathyroidism, dysproteinemia, lymphoma, heavy metal poisoning, post-radiation effects, Guillain-Barré syndrome Course: almost always progresses to respiratory failure/death Sporadic 60s, more males, 2-7 yr course / variants include progressive muscular atrophy, progressive bulbar palsy, primary lateral sclerosis Familial 10% of cases / eosinophilic inclusions in anterior horn cells / degeneration of posterior columns / onset in lower limbs with SOD-1 mutations Treatment: primarily supportive Riluzole interferes with glutamate release (100 mg qd shown to prolongs life-expectancy 20%; even more in patients with bulbar onset) IGF-1 – studies mixed (may not be approved?) Zonaflex relaxes muscles (increases speed, decreases pain) Spinal muscular atrophy (SMA) Degeneration of anterior horn cells of spinal cord MRI may show severe atrophy of entire muscles / may have intermediate form with preservation of adductor longus or mild form with fatty infiltration and increased intermuscular fat planes MRI of lower extremities for adjuvant in diagnosis and follow-up assessment Werdnig-Hoffman disease (infantile spinal muscular atrophy) progressive degeneration of anterior horn cells / pathognomic groups of large type I fibers floppy baby, frog position, hypotonia, weakness, decreased DTR’s, tongue fasciculations / fatal < 2 yrs (recurrent respiratory infections) Kugelberg-Welander syndrome proximal muscle weakness after initial normal development / slow or no progression over years Other Motor Disease Tourette’s (see psyc) onset < 15 yrs / 1st clonazepam/clonidine, 2nd haloperidol, 3rd pimozide Benign Essential Tremor Intention tremor, may have cogwheel-like rigidity / may have finger to nose but without other cerebellar abnormalities / thought to be overactivity of sympathetics Treatment: B-blockers (propranolol) 1st line or ?mysoline, Klonopin, or Neurontin Restless Leg SyndromeCauses: idiopathic or anemia or renal insufficiency Exam: normal reflexes, motor / possible mild sensory loss Treatment: DA agonists (pramipexole, pergolide, ropinirole) act directly / BZ or opioids provide indirect relief Idiopathic DystoniaWriter’s cramp Stiff Person Syndrome or Stiff Man Syndrome rare CNS, systemic disorder / rigidity of truncal and proximal limb muscles with intermittent superimposed spasms / anti-GAD65 or glutamic acid decarboxylase antibodies (same antibodies found in type I DM, associated with autoimmune syndromes) / Ab are produced intrathecally resulting in low GABA levels / sometimes alleviated by high doses of diazepam (some try plasma exchange and IVIG) Primary demyelinating diseasesacute perivascular myelinoclasis Acute disseminated encephalomyelitis (ADEM) children / 3-21 days after infection or immunization / 15% mortality cellular immunity (NO Ab’s in CSF)
hyperacute / rapidly fatal / Abs’? / resembles EAE animal model Guillain-Barré syndrome acute inflammatory demyelinating polyradiculoneuropathy following Campylobacter jejuni (20-40%), respiratory infection, vaccination Presentation: distal then proximal (ascending paralysis) / paresis, paralysis, dysesthesia (50% facial diplegia, autonomic nerve abnormalities, CNS abnormalities) / may have chronic form Ddx: myasthenia gravis, multiple sclerosis, CIDP, ALS, polio, porphyria, heavy metals, botulism, transverse myelitis, diptheric neuropathy, tick paralysis, lyme disease, HIV, meningitis Diagnosis: EMG shows diffuse demyelination (nonuniform slowing and conduction block) / CSF protein > 55 with little or no WBC / antibodies in CSF (anti-ganglioside Ab’s up to 50%) / EAN / MRI with normal or subtle enhancement of nerve roots Treatment: always admit to ICU and intubate for FVC < 15-20 ml/kg or MIP < 30 cmH2O or MEP < 40 cmH2O (30% require intubation) plasma exchange 200-250 mL plasma/kg body weight over 7 days IVIG 0.4 g/kg body weight daily for 5 days steroids have NOT been shown to be of benefit DVT prophylaxis and intense PT Course: 5% mortality Multiple Sclerosis (MS) Epidemiology: 20s and 30s / female:male 2:1 / 1 in 2000 / 2nd most common non-traumatic disabling neurological disease of young adults / associated with temperate climates Genetics: HLA DR2, B3, B7 (viral trigger?) / general population 0.1%, parent, uncle, aunt 5% / sibling 2% Mechanism: T-cells attacking white matter Pathology: irregular, patchy distribution / chronic, active plaques vs. shadow plaques (relapse, remit) / lesions occur in brain and spinal cord Presentation: limb weakness, paresthesias, optic neuritis, diplopia, urinary retention, vertigo / symptoms can be transient (days) or chronic / other findings include spasticity, incoordination, partial or complete paralysis / chronic cognitive dysfunction may occur / may present as isolated optic neuritis, transverse myelitis, brain stem–cerebellar syndrome Diagnosis: 4% with both negative CSF and MRI / LP only needed in some cases (can make diagnosis based on clinical and MRI) CSF – abnormal > 80% / mild lymphocytosis ( > 5 and usu. < 20) / mild protein elevation < 100 / IgG and oligoclonal bands > 90% (during flares) / can measure MBP to follow disease activity MRI – abnormal > 80% / T2 hyperintense lesions in white matter, T1 contrast reveals active lesions / should find some periventricular lesions [pic] (usu. enhancing, older lesions may appear as “black holes”) EEG: evoked potentials (not really necessary) – abnormal (60-80%), may help find other areas of involvement Ddx [table]: B12 deficiency, neoplastic, paraneoplastic, infectious, autoimmune vasculitis, monophasic demyelinating syndrome (which then does not progress to MS), stiff person syndrome Treatment: current strategy is to treat earlier and aggressively High-dose steroids – used for acute attacks / 1 g day for 5 days (less effective later on in course) then slow taper over 2-3 weeks IFNß – reduces time between attacks (30%) / can exacerbate symptoms transiently IFNß-1b (Betaseron) IFNß-1a (Avonex, Rebif) given once a week Glatiramer (Copaxone) – daily SC injection / synthetic amino acid combination Treat complications: Baclofen to reduce spasticity Anti-cholinergics for bladder storage problems Bethanechol for bladder emptying problems TCA’s or tegretol for dysesthesias ( ~peripheral neuropathy-like issues)
poor prognostic indicators: > 2 exacerbations/yr, motor/cerebellar involvement, older age at onset (> 40), residual motor/cerebellar deficits 6 months s/p attack, moderate disability by 5 yrs good prognostic indicators: initial attack is optic neuritis or pure sensory Primary Multiple Sclerosis Fatigue self-management strategies - managing time differently, adjusting activities, naps, minimize heat (cool beverages, cool showers), exercise program 1st amantadine 100 mg bid (morning and noon) – mechanism unclear 2nd pemoline – may cause irritability, anxiety and need LFT’s checked q 2 wks 3rd methylphenidate and dextroamphetamine – potential for abuse SSRI have been used successfully (even without any underlying mood disorders) Non-classic Multiple Sclerosis Acute (Marburg) rapid course less than 10 months / no evidence of antecedent infection Neuromyelitis optica (Devic) under 10 or over 60 / blindness and paraplegia / more common in Japan Diffuse cerebral sclerosis (Schilder’s disease) sporadic, diffuse / variant of MS occurring in children Concentric sclerosis (Balo) very rare, occurs in children / death in 3-5 yrs Demyelinating disorders associated with systemic disease central pontine myelinosis Marchiafava-Bignami - cheap red wine PML from JC virus Note: blood-nerve-barrier is less effective in dorsal roots and dorsal and autonomic ganglia Peripheral Neuropathies Hereditary motor and sensory (CMT), sensory and ANS, tomaculous, giant axonal, amyloid neuropathy Acquired DM, paraneoplastic, systemic inflammatory, drug-induced, infection, carpal tunnel Predominantly sensory multiple mononeuropathy: sarcoidosis, malignancy, retroviruses, leprosy, hepatitis, lyme, CIDP Work-up Basic: CXR, TSH, FBS/A1C, Other HIV, Hep Panel, VDRL ANA, Ro, La SPEP, cryoglobulins Anti-MAG CIDP (can show up in CSF) Anti-Hu 80% sensitivity with paraneoplastic neuropathies Anti-GD1b/Anti-GQ1b
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