Ataxia

If a Pt has focal ataxia for hours to days what would be a suspected causes?

1. *Cerebellar Infarction or Hemorrhage* 2. SAH 3. Cerebellar Abscess --> + mass lesion on MRI/CT

Pt has focal ataxia for months to years what are some causes?

1. *Congenital Lesion --> Chiari or Dandy-Walker* malformations

If a pt has experienced symmetrical ataxia for months to years what would you suspect?

1. *Inherited ataxia* 2. MSA-cerebellar 3. Paraneoplastic 4. Autoimmune --> Anti-GAD 5. Hypothyroidism

What are some causes of a pt with symmetrical ataxia for anywhere from several hours to days?

1. *Intoxication* --> alcohol, Lithium, or barbituates. Need +history and tox screen 2. *Acute Viral Cerebellitis* --> CSF supportive of acute viral infection 3. Postinfectious Syndrome --> usually viral

Pt Presents with motor/sensory loss and cranial nerve palsies that are asymmetric and might have impaired level of consciousness. What might you suspect?

1. Acute Stroke or Bleed 2. Get a CT --> look for bleed or infarct

Once you diagnose a pt with Friedreich Ataxia, what do you need to watch out for? What are other common characteristics?

1. Ambulation lost by 9-15 years after onset 2. Foot Deformity, Diabetes , and cardiac hypertrophy

Progressive Ataxias can be?

1. Autosomal Dominant and Recessive 2. Mitocondrial 3. X-linked

What are different types of ataxias?

1. Cerebellar 2. Sensory 3. Misc. Ataxia --> Vestibular ataxia, Thalamic ataxia, Frontal Dysequilibrium

Features of Episodic Ataxias?

1. Channelopathies, enzyme defects (autosomal, X-linked)

Non-progressive ataxia characteristics and example?

1. Congenital, Autosomal, X-linked --> cerebellar malformations 2. Dandy-Walker

Sudden episodes of ataxia provoked by movement --> being startled or emotion (Seconds to Minutes)?

1. EA 1 2. Problem with Voltage Gated Potassium Gene 3. Treat with Azetazolamide

Sudden Episodic bouts of ataxia with nystagmus, vertigo, and vertigo provoked by stress, exercise, fatigue, coffee/alcohol (hours to days)?

1. EA 2 2. Calcium Channel Gene

In cerebellar ataxia what is the problem?

1. Faulty proprioceptive integration

If you a have patient under the age of 30 who presents with progressive limb and gait ataxia what might you suspect? What is the causes?

1. Friedreich Ataxia --> Progressive disorder that is Autosomal *Recessive* 2. GAA triplet repeat expansion of X25gene --> reduced *Frataxin* Protein

What are some causes of acute ataxic gate in an alcoholic pt? How would you treat this?

1. Intoxication 2. Thiamine Deficiency --> Wernicke's Encephalopathy = confusion, eye movement abnormality

What are some causes of a pt with symmetrical ataxia for days to weeks?

1. Intoxication --> mercury, solvents, gasoline, glue 2. Cytotoxic chemo drugs --> cytarabine 3. *Alcoholic-Nutritional* --> Vit B1 and B12 deficiency 4. EBV, CMV, Lyme

If you have a pediatric pt who you might suspect has an Ataxic disorder what are you looking for? What is the workup? Big thing that is on your differential?

1. May appear wobbly when sitting 2. Commonly due to *Intoxication* --> a) Ask about Meds at home. b) think infection (*viral*) or post infectious inflammation 3. Admit --> Utox --> Drug Screen --> CT Head --> LP if *ALL NEGATIVE* 4. Medulloblastoma

1. Your pt has trancul ataxia, where might lesion be?

1. Midline Cerebellar lesion --> truncal ataxia

What would you see in a pt who as is an alcoholic and has developed chronic ataxic gait>

1. Midline cerebellar atrophy 2. neuropathy in feet 3. Dorsal column damage from B12 deficiency

Pt presents with focal ataxia for days to weeks what are some causes?

1. Neoplastic -> cerebellar *glioma* or metastatic tumor 2. Demyelinating --> *Multiple Sclerosis*

What are some of signs associated with ataxia in Geriatric Population?

1. Normal Agre related changes (>65) --> decreased in gait speed, stride length, post. shift in center of gravity, & unable to perform tandem gait 2. *Multifactorial Gait Disorder* --> normal age related changes + neuropathy, mechanical arthritic changes, or sedative meds can result in falls

A geriatric pt with acute worsening of age related changes presents to your clinic. What should your course of action be? What are some possible therapies for geriatric pt's with ataxia?

1. Order CT 2. Look for subdural 3. *Physical Therapy* --> *gait retraining* or ambulatory aids 4. Reassess Medication List

Pt presents with ophthalmoplegia, spasticity, parkinsonism, facial myokymia, neuropathy, and cognitive decline?

1. SCA 3 = Machado Joseph Disease 2. Death occurs 15-20 years usually by aspiration PNA

What is the most common SCA? What is the causes?

1. SCA 3 = Machado Joseph Disease --> Autosomal dominant 2. CAG repeat --> ATXN3 gene = *Ataxin 3* protein

A benign, late onset SCA? SCA that presents with Vision Loss?

1. SCA 6 2. SCA 7

Pt comes in complaining of difficulty walking and problems with other voluntary movements. She notes that she has noticed that it worsens when her eyes are closed. What do you suspect? What is cause? What signs will you see?

1. Sensory Ataxia 2. Caused by Dorsal Column or Large Fiber Neuropathy 3. No association features of cerebellar ataxia 3. Will see Pseudo-ataxia and Romberg's

What would you expect to see in a pt with Dandy Walker in early infancy?

1. Slower motor development 2. progressive enlargement of skull

Gradual onset of cerebellar ataxia with associated features involving other systems?

1. Spinocerebellar Ataxias (SCA) --> Progressive disorder that is Autosomal *Dominant* 2. CAG Triplet Repeat 3. Usually *3rd-5th decade* of onset 4. SCA types 1-29 + DRPLA

How would you treat pt with thiamine deficiency leading to acute ataxic gate?

1. Start Thiamine 200 mg IV start before or with IV glucose

What are some features of Cerebellar ataxia?

Ataxia of Gait Dysdiadochokinesia Dysmetria Loss of check and *rebound* Intention tremor Eye Movements --> Nystagmus, Dysmetric, Saccades Scanning Dysarthria Hypotonia and slow Pendular Deep Tendon Relfex

If a pt presents with a mixture of features such as the following: rubral tremor, thalamic ataxia, frontal gait ataxia. Where might the lesion be?

Cerebellar inflow and outflow tracts

Triad of features: 1. Complete or partial *Agenesis of Vermis* 2. Cystic *dilation of 4th ventricle* 3. *Enlarged posterior fossa* w/ upward displacement of lateral sinus, tantrum and torcular herophili

Dandy Walker

Breakup and irregularity of movement when the limb is trying to carry out rapid movements

Dysdiadochokinesia

What is ataxia?

Lack of coordination resulting in breakdown of normal execution of voluntary movements

Pt has right sided limb ataxia. Where in the cerebellum might you suspect the lesion be?

Lateral Cerebellar Lesion --> Ipsilateral limb ataxia

Pt has right sided ataxia with sensory loss, where might the damage be?

Left Thalamic Infarct

Pt presents with ipsilateral dysdiadochokinesia, dysmetria, and intention tremor. Where would you suspect lesion?

Neocerebellum --> lateral hemisphere

Spoken words are broken up into separate syllables, often separated by a noticeable pause, and spoken with varying force

Scanning Dysarthria

Pt presents with gait ataxia or truncal ataxia. Where would you suspect lesion?

Spinocerebellum --> Vermis and paravermian region

Pt presents with ataxic gait, truncal ataxia, with vertigo, nausea, nystagmus & other eye movement abnormalities. Where would you suspect lesion?

Vestibulocerebellum --> Flocculonodular Lobe

What would you expect to see in a pt with Dandy walker in an older child? What treatment would you might need?

1. Raised ICP 2. Signs of Cerebellar Dysfunction 3. VP shunt for *hydrocephalus*

Unsteadiness with a wide base, body swaying, and inability to walk on tandem (heel to toe)

Gait Ataxia