Across
- 3. The most common cause of overlapping frontotemporal dementia and amyotrophic lateral sclerosis, highly associated with abnormal TDP-43
- 4. This autosomal dominant trinucleotide repeat expansion disorder (CAG repeats) that is most commonly seen in patients of Asian descent and leads to chorea, myoclonus, and seizures is due to a mutation on chromosome 12
- 6. Dravet's syndrome, which is a severe epilepsy syndrome associated with frequent seizures and multiple seizure types, is most commonly associated with a mutation in this gene
- 8. CADASIL is an autosomal dominant condition that causes multiple strokes in individuals without traditional vascular risk factors and is caused by a missense mutation on this gene on chromosome 19
- 10. Multiple schwannomas and meningiomas are concerning for neurofibromatosis type 2, located on this gene
- 11. Most common neurodegeneration with brain iron accumulation disease, associated with “eye of the tiger” sign on MRI
Down
- 1. A duplication in this gene on chromosome 17 leads to the most common type of charcot-marie-tooth syndrome
- 2. This X-linked disorder resulting in hyperuricemia, neuropsychiatric symptoms, self-mutilation, dystonia, and chorea is due to a mutation in this gene
- 3. A patient presents with migraine associated with weakness on one side of her body. The patient’s mother had episodes of ataxia and nystagmus. Their symptoms best localize to this gene
- 5. A patient with a wing-beating tremor, Kayser-Fleischer rings, and an MRI of the brain demonstrating the double panda sign will have a mutation on this gene
- 7. This gene does not cause Alzheimer’s but triples the risk of getting it
- 9. An autosomal dominant trinucleotide repeat expansion disorder (CAG repeats) that most commonly causes chorea and psychiatric manifestations is due to a mutation in this gene located on chromosome 4