Table 1 Clinical data at last presentation. MRI showed global cerebellar atrophy.
From: Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
patient | age | sex | DD | cerebellar ataxia | oculomotor apraxia | neuropathy | dystonia | pyramidal signs | dementia | MRI | AFP | cholesterol | CK |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
no. | [years] | [years] | (MMSE) | (atrophy) | [< 5 ng/ml] | [< 220 mg/dl] | [< 171 U/l] | ||||||
1 | 25 | m | 13 | yes | yes | yes | no | no | No (27/30) | cerebellum | 9.7 | 179 | 138 |
2 | 28 | m | 13 | yes | yes | yes | no | no | No (30/30) | cerebellum | 12.6 | normal | 193 |
3 | 29 | m | 17 | yes | yes | yes | no | no | no | cerebellum | 56 | 155 | 220 |
4 | 33 | f | 21 | yes | no | yes | no | no | No (30/30) | cerebellum | 32 | n.a. | 171 |