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Neurodegenerative Movement Disorders Parkinsonism Nancy L Diaz-Pechar, MD Movement Disorder Center Director Disclosure • Dr. Nancy Diaz-Pechar has served as a speaker for Teva pharmaceuticals • There are no financial disclosures that would be a potential conflict of interest with this presentation. Goals and objectives • To understand how to distinguish between atypical parkinsonism and Parkinson’s disease • To review clinical presentation and treatment of progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration • To briefly review the clinical presentation and treatment of Huntington’s Disease Parkinsonism • Diagnosis remains to be clinical • No imaging, genetic test, biomarkers definitively diagnose • Medical history, time-line, significant clinical signs • Given emerging clinical signs diagnosis can change overtime as it become more clear • Bradykinesia – An essential clinical sign as it implies an abnormal basal ganglia-cortical neuronal circuit – Slowness of initiation with progressive reduction in speed – Decreased amplitude with repetitive movements. – Exam: finger taps, rapid alternating movement, repetitive hand opening, heel taps, toe tap (?pauses or freezing) – Archimedes spiral, micrographia – Hypomimia – Reduced arm swing – Poor dexterity – Hypophonia • Hypokinesia – Slowed movements without decrement • Extrapyramidal rigidity – Increased resistance independent of velocity • Lead pipe-constant • Cogwheel- inconsistent • Tremor – 4-6 Hz rest tremor which ceases or attenuates with action – Asymmetric – Re-emergent tremor- 5-10 sec • Postural instability and gait disturbance – – – – – – – – – Reduced speed Imbalance Narrow based, shortened stride Decreased arm swing Freezing (initiation, turn, doorway) En bloc turning Early sign in atypical parkinsonism Lurching gait –PSP Ataxia-MSA Parkinson’s disease (PD) • Clinical Diagnosis – – – – Bradykinesia plus at least one other symptom Rest tremor Extrapyramidal rigidity Postural instability • Shuffling, freezing, festination – Typical parkinsonian features • Unilateral • Levodopa response • Dyskinesia • Autonomic disturbances: constipation/ gastroparesis, urinary urgency, frequency, nocturia, incontinence, sexual dysfunction, sweating, drooling • Restless leg syndrome • Sleep disorders: REM sleep behavior disorder (RBD), excessive daytime sleepiness, insomnia • Anosmia • Fatigue/ Apathy • Cognitive impairment – Executive dysfunction/ MCI – PDD • Depression/ Anxiety • Hallucinations/ psychosis Medications and surgical treatment options • Carbidopa/levodopa (IR, CR, Parcopa, Rytary, Duopa via JPEG pump) • Dopamine agonist (ropinirole, pramipexol, Neupro, apomorphine) • Monoamine oxidase inhibitors (selegiline, rasagiline, Zelapar) • Catechol-O-Methyltransferase Inhibitors (tolcapone, entacapone) • Amantadine • Anticholinergics (trihexyphenidyl, benztropine) • Deep brain stimulation • Various medications for nonmotor symptoms Signs of Atypical Parkinsonism/ Parkinson-plus disorders • Diagnosis based on clinical features and are confirmed pathologically • Signs it is not PD but rather an atypical – – – – Early postural instability/ gait disturbance Rapid progression Early dysphagia Dysarthria is different than typical hypokinetic changes seen with PD – Paucity, absent or atypical tremor – Poor or no response to levodopa – Pyramidal tract findings (pseudobulbar palsy, UMN) Progressive Supranuclear Palsy (PSP) • Presenting sign is postural instability with early falls (often backward) • Slowed saccades/ supranuclear gaze palsy (paralysis of voluntary vertical and later horizontal gaze but preserve reflexive eye movements) • Parkinsonism which is not usually levodopa responsive and whose onset is typically symmetric • Executive dysfunction/ frontal cognitive deficits • Dysarthria • Dysphagia • Taupathy (abnormal accumulation of Tau protein in brain) • Slightly more common in men • Average age of onset typically in 60’s (can be as early as in 40’s) PSP-subtypes • PSP-Richardson syndrome – – – – Mean age of onset 65 Early postural instability and falls Apathy/ personality changes Visual changes • slowed vertical saccades- hypometric saccades- square wave jerks-supranuclear vertical gaze palsy – Cognitive deficits • Slowed processing • Visuospatial dysfunction – Dysarthria – Dysphagia- aspiration – Dependent on others within 3-4 years, mean duration 7 years • PSP-parkinsonism – Can be indistinguishable from PD at onset – Bradykinesia and limb rigidity at onset – Occasional jerky tremor – Axial rigidity – Early responsiveness to levodopa but this typically dissipates over time – Postural instability, cognitive deficits, and supranuclear gaze palsy will occur later in the first few years • PSP-pure akinesia with gait freezing – – – – – – – Less common Bradykinesia mostly affecting gait/ freezing Hypophonia Hypomimia Micrographia Axial rigidity with no limb rigidity Supranuclear palsy and blepharospasm occur late – Median duration- >10 years • PSP-corticobasal syndrome – Known only by pathological studies – Presents as corticobasal ganglia degeneration • PSP-frontotemporal dementia – Less common – Known due to pathological studies – Behavioral variant frontotemporal dementia or progressive nonfluent aphasia variant – Typical PSP symptoms develop >5 years after onset PSP Treatment • Medication trial (levodopa, amantadine, vesicare for overactive bladder) • Dystonia/ blepharospasm – consider neurotoxin injections • Diplopic- consider prism glasses • Multidisciplinary care: neurologist, psychiatrist/ psychologist, PT/OT/ Speech, social worker, palliative care • Physical therapy/ Occupational therapy – Strength, aerobic, and balance exercises, eye movement exercises – Fall prevention • Train on wide, staggered stance to improve stability on anterior to posterior weight shift • Big steps, foot clearance, U-turns • Avoid bending low/ standing quickly • Scan area with eyes before walking • Stop and move head and eyes to direction of turn before turning – Heel wedge/ lift – Assistive devices • Rollator with brakes, wheelchair, scooter – Environmental assessments/ home modifications – ADL training • Speech therapy – Dysphagia • Symptoms: delayed pharyngeal swallow onset, difficulty seeing the whole plate, rapid drinking/ eating, rigidity or hyperextended neck affecting self-feeding, difficulty opening mouth, lack of insight to swallowing issue • Mealtime swallow evaluation, video swallow study, compensatory strategies such as repositioning, keeping plate in line of vision, chin-tuck, mealtime adaptive devices, altered diet, alternating between liquids and solids, discuss feeding tube options with physician – Communication • Hypokinetic and spastic dysarthria, stained and slow voice with impaired fluency, palilalia, language and cognitive deficits, emotional lability • Train to speak loudly and slowly (LSVT ), short phrases, use gestures, yes/no questions, communication board or speech generating device, personal portable amplifier Multiple System Atrophy (MSA) • Prominent autonomic dysfunction precedes motors signs by years – Progressive bladder dysfunction (increased frequency, urgency, incontinence, retention) – Orthostatic hypotension – Erectile dysfunction – Constipation – Difficulty with thermoregulation • Parkinsonian phenotype – – – – – – – Symmetric Faster progression than PD Postural instability , freezing, and falls within 3 years Stimulus sensitive myoclonus > rest tremor Bradykinesia, rigidity Dysarthria and dysphagia Dystonia • Laryngeal- inspiratory stridor / vocal cord abductor paresis • anterocollis • Cerebellar phenotype – Ataxic gait, limb/ truncal ataxia – Nystagmus, jerky saccades • Synucleinopathy (accumulation of alpha synuclein protein) • Mean duration- about 7-8 years but actually varies so range is large • Average age of onset is in the 50’s • More common in men • Sub-classified according to prominent symptoms: MSA-C, MSA-P MSA Treatment • Levodopa trial (typically poor levodopa response but up to 1/3 have good response) • Anterocollis – Positioning, stretching, bracing – Tilt wheelchair • Treat hypotension – – – – – – d/c antihypertensive Increasing salt intake Compressive stockings Fludrocortisone, midodrine, Northera Elevate head of bed Smaller more frequent meals • Treat urologic issues – Medications/ Botox for bladder spasticity – Self cath/ suprapubic catherization • Multidisciplinary care: neurologist, psychiatrist/ psychologist, PT/OT/ Speech, social worker, palliative care • Physical and Occupational therapy – Large movements for bradykinesia (BIG) – Gait training, U- turns, wide stance, fall prevention, rising slowly – ADL training/ functional mobility • Avoid overreaching, sitting while dressing – Assistive devices and home modifications • Shower chair, grab bar, hand held shower head, bed rail, etc. • Speech therapy – Dysphagia • tendency toward bolus holding in oral cavity and discoordinated bolus propulsion, difficulty sitting upright, increased pharyngeal secretions, vocal fold motion impairment may compromise airway protection • Moist, soft food, chin-tuck, restrict bolus volumes, alternate food and liquid, smaller more frequent meals, mealtime adaptive devices – Communication • Hypokinetic dysarthria, hypophonia or ataxic or spastic dysarthria – LSVT, reduce rate of speech to improve coordination and accuracy, communication board or speech generating device, personal portable amplifier, yes/ no questions. Corticobasal Degeneration/ Syndrome • Affects the fronto-parietal cortex and the basal ganglia • Signs and symptoms include – – – – – – – – – – – Asymmetric ideomotor apraxia Asymmetric rigidity and bradykinesia Myoclonus, atypical tremor Dystonia Alien-limb phenomenon Corticosensory deficits Postural instability/ progressive gait changes until bedbound Progressive aphasia Mild cognitive or behavioral issues Dysphagia Dysarthria Corticobasal Degeneration (CBD) • Tauopathy • Average age of onset in the 60’s but can be as early as in 40’s • Various phenotypes (overlapping features with other disorders such as PSP, FTD, PPA, posterior cortical atrophy, Alzheimer’s, etc..) • Definitive diagnosis only by autopsy • Mean duration 5-10 years from onset of symptoms CBD treatment • • • • Supportive to optimize function Patient and caregiver education Not responsive to dopaminergics Treat myoclonus with antiepileptic medications • Treat dystonia with neurotoxin injections with the goal of reducing pain and improving hygiene • Physical and Occupational therapy – Stretching or bracing for anterocollis/ dystonia – Encourage use affected limb (hand/ wrist extension to maintain an open hand) – Large movements for bradykinesia – Gait training, U- turns, wide stance, Fall prevention – ADL training – Assistive devices and home modifications • Speech therapy – Dysphagia • Symptoms: slow or incomplete chewing and swallowing, difficulty self feeding, oral and swallowing apraxia • Treated as in PSP – Communication: • Symptoms: hypokinetic and spastic dysarthria, progressive apraxia, may have non fluent aphasia • Encourage to use short phrases and simpler language, write, yes/no questions, communication board Huntington Disease • Progressive, inherited, neurodegenerative disorder with no cure • Autosomal dominant, trinucleotide repeat of CAG coding for glutamate, gene on short arm of chromosome 4 • Anticipation • Chorea- involuntary, irregular, rapid and unsustained movements which flow between body parts • Motor impersistence (milkmaid grip, tongue protrusion) • Dystonia • Ataxic gait • Cognitive decline: impaired judgement, forgetfulness • Dysarthria, eventually may be unable to speak but will comprehend and retain awareness • Dysphagia • Psychiatric manifestations: personality changes, mood swings and depression Huntington’s disease Treatment • Nothing alters course. No cure. • Multidisciplinary care: neurologist, psychiatrist/ psychologist, PT/OT/ Speech, social worker, palliative care • Medications to lessen chorea – Tetrabenazine, other antipsychotic medications such as risperidone, olanzapine, haloperidol, etc.. • Medications for psychiatric disorders – Antidepressants • citalopram, fluoxetine, sertraline – Antipsychotics – Mood stabilizers • valproate, carbamezapine, lamotrigine • Physical and occupational therapy – – – – – Strengthening and coordination exercises Balance and gait , fall prevention Posture Respiratory exercises Assistive devices: walker (add weights for chorea), wheelchair, adaptive utensils, tub bench, foam grip, lift chair, etc. – Adaptive improvement of ADL’s, caregiver training, improve transfers – Goal is to maintain cognitive, motor, and functional performance • Speech therapy – Impaired control of muscles of mouth and throat – Mealtime swallow evaluation, video swallow study, compensatory strategies such as repositioning, mealtime adaptive devices, altered diet – Speech and cognitive effects variable Summary • Diagnosis of the type of parkinsonism is complicated as they are separate by subtle changes in signs and symptoms. Careful evaluation is required. • Neurodegenerative movement disorders discussed are progressive, and have no cure, but diagnosis helps with patient and family education, prognosis and guide specific treatment. • Multidisciplinary care is essential in caring for patients with neurodegenerative movement disorders. • True or false – Different subtypes of progressive supranuclear palsy have been described, one of which shows early responsiveness to levodopa which dissipates over time.