From: Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families
Family | Individual | AO examination | AO Onset | AO Death | Genotype (SCA7) | Clinical symptoms | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ataxia | Visual loss | Ptosis | Ophthalmoplegia | Bulbar syndrome | Dysarthria | Spasticity | Dementia | CT | MRI | ||||||
1 | i.1 | 71 | 59 | 73 | NT | x | x | x | x | x | x | x | x | Brainstem & cerebellar atrophy | Â |
ii.10 | 51 | Early 40’s | U | N/E (9/50) | x | x | x | x | x | x | x |  |  | Diffuse cerebral and cerebellar atrophy, mild brainstem and cortical atrophy | |
ii.11 | 36 | U | U | N/E (9/55) | x | x | x | x | Â | x | Â | x | Â | Ponto-Cerebellar ND cortical atrophy | |
ii.13 | 44 | U | U | N/E (9/50) | x | x | x | x | Â | x | Â | Â | Â | Cerebellar and mild pontine and cortical atrophy | |
ii.14 | Â | 18 | 29 | N/E | x | x | Â | Â | x | x | Â | Â | Â | Â | |
ii.16 | Â | 29 | 36 | NT | x | x | x | x | x | x | x | x | Mild cerebral and severe cerebellar atrophy | Mild cerebral and severe cerebellar atrophy | |
ii.19 | 39 | U | U | NT | x | x | x | x | Â | x | Â | Â | Â | Cerebellar atrophy and cortical atrophy. | |
iii.11 | 12 | 12 | U | 10/56 | x | x | x | x | Â | x | x | Â | Cerebellar atrophy | Cerebellar atrophy | |
iii.12 | 20 | 17 | U | 9/47 | Â | x | x | Â | Â | Â | Â | Â | Cerebellar atrophy | Â | |
2 | iii.1 | 33 | 29 | U | N/E | x | x | Â | x | Â | x | Â | x | Â | Severe diffuse cerebral and cerebellar atrophy |
iii.3 | 30 | U | U | N/E (9/52) | x | x | Â | x | Â | x | Â | x | Â | Olivo-ponto-cerebellar and cortical atrophy | |
3 | iii.11 | Â | U | U | NT | x | x | Â | x | Â | Â | Â | Â | Â | Â |
iv.10 | 26 | 16 | U | NT | x | x | x | Â | Â | Â | Â | x | Â | Mild cerebral and cerebellar atrophy | |
4 | iii.8 | 68 | 60 | U | N/E | x | x | Â | x | Â | x | Â | x | Â | Diffuse cerebral and cerebellar atrophy |
iv.12 | 25 | 16 | U | N/E | x | x | x | x | Â | x | Â | Â | Cerebellar and diffuse cerebral atrophy | Cerebellar and diffuse cerebral atrophy | |
5 | ii.2 | Â | 53 | U | NT | x | Â | Â | Â | Â | Â | Â | Â | Cerebellar atrophy | Â |
iii.4 | 36 | 28 | U | NT | x | Â | Â | x | Â | x | Â | x | Mild cerebral and moderate cerebellar atrophy | Â | |
6 | iii.7 | 25 | 19 | U | NT | x | Â | Â | Â | Â | x | Â | x | Â | Cerebellar atrophy and mild pons atrophy |
7 | ii.3 | 31 | 23 | U | NT | x | Â | Â | Â | Â | x | Â | Â | Â | Mild cerebellar atrophy |