Table 1

 MJD patient characteristics

PatientsSymptoms at the time of MRI
NoSex(CAG)nOnset ageDuration before MRI (years)Lim EMSlow EMAtxM atrophFascSpBabIMRigSen
*The autopsied patient; †the sister of the autopsied patient.
Atx, ataxia; Bab, Babinski’s sign; (CAG)n, the number of CAG repeats; Fasc, fasciculation; IM, abnormal involuntary movement; Lim EM, limitation in eye movement; M atroph, muscular atrophy; n, absent; p, present; Rig, rigidity; Sens, sensory disturbance; Slow EM, slow eye movement; Sp, spasticity.
1F13/733019pnpnnnnnnn
2F14/564816pnpnpnnpnp
3F25/674216pnpnpnnnnn
4*M18/714016pnppnppnnn
5M27/705016nppnpnpnpn
6M23/723214pnpnppnpnn
7F18/703612nnpnnpnnnp
8M19/703111nnpnppnnpn
9F25/634810pnpnpppnnp
10M19/65528nnppnppnnn
11†F19/65408nnpnppnnnp
12F27/72387pppnpnpnnp
13M27/59696nnpppnpnnn
14M27/63545nnpnppnnnn
15M27/65373pnpnppnnpn
16M27/66581nnpnnnnnnn