progressive ataxia

Question 1

acute ataxia ddx?

Answer 1

Vascular: stroke, hemorrhage, Vascular malformation
Toxic: alcohol intoxication, Anti-seizure medications, especially those that affect sodium channel such as phenytoin, carbamezapine, lacosamise, and others such valproic acid, chemotherapy such as cytarabine
Metabolic: thiamine deficiency- wernicke encephalopathy (ataxia, delirium, ophthalmoplegia), low vitamine E, hypothyrodism, hypoparathyrodism
Infectious: HSV, HIV, lyme, whipple disease

Question 2

chronic ataxia ddx?

Answer 2

Inflammatory: MS, ADEM, PML, Neurosarcoid, vasculitis (Bechet, LUPUS)
Toxic: alcohol intoxication, Anti-seizure medications, especially those that affect sodium channel such as phenytoin, carbamezapine, lacosamise, and others such valproic acid, chemotherapy such as cytarabine
Autoimmune: Miller fisher syndrome, Celiac (anti gliadin antibody), Anti GAD, vasculitis,
Metabolic: thiamine deficiency- wernicke encephalopathy (ataxia, delirium, ophthalmoplegia), low vitamine E, hypothyrodism, hypoparathyrodism
Infectious: HSV, HIV, lyme, whipple disease, listeria, borrelia
Neoplasm: Anti HU, CRMP5, anti YO, anti RI
Structural: tumor (ependymoma, medulloblastoma), abscess
Neurodegeneration: MSA- C, fragile X tremor ataxia syndrome
Genetics: SCA 3 EOM+ataxia+ EP

Question 3

episodic ataxia ddx?

Answer 3

1. Vestibular migraine
2. TIA
3. Focal seizure
4. Episodic ataxia type 2 is inherited ataxia disorder characterized by recurrent episodes of vertigo and ataxia. The onset of symptoms may occur in childhood or early adulthood. This disorder is due to mutations in CACNA1A

Episodic ataxia type 2 manifests with recurrent vertigo and ataxia often associated with downbeat nystagmus, both during and even between attacks of vertigo and ataxia. commonly precipitated by emotional stress.During spells, patients report dizziness, loss of balance, and sometimes slurred speech that may last from minutes to a day or two. The diagnosis should be suspected in a patient with a long history of recurrent bouts of unexplained vertigo associated with slurred speech and ataxic gait. Brain MRI may show midline cerebellar vermis atrophy in some but not all patients.

ataxia and vertigo attacks may subside with the use of acetazolamide Responsiveness to acetazolamide is further confirmation of the diagnosis of episodic ataxia type 2.
5. Episodic ataxia type 1 is a separate disorder related to disturbances in potassium channels and differs clinically because the attacks of vertigo and ataxia are shorter in duration and may be associated with myokymia even between attacks. If the patient has dysarthric speech during spells or interictal myokymia, episodic ataxia type 1 should be considered. Treatment for episodic ataxia type 1 and other subtypes is not well established.

Question 4

mutations in CACNA1A ?

Answer 4

1. EA2
2. Hemiplegic migraine
3. seizures