| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
DNK
|
60
|
79
|
n.a.
|
Spastic gait
Babinski sign Wheelchair Gait ataxia Spasticity, lower limb Nystagmus Lower limb muscle weakness Dysarthria Inability to walk Cognitive impairment Cerebellar atrophy Ataxia, limb Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DNK
|
25
|
39
|
n.a.
|
Spastic gait
Spasticity, lower limb Dysarthria Ataxia, limb Gait ataxia Babinski sign Abnormality of the bladder Cerebellar atrophy Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
n.a.
|
81
|
n.a.
|
Lower limb muscle weakness
Inability to walk Hyperreflexia in upper limbs Muscle weakness, upper limb Spasticity, lower limb Wheelchair Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
DNK
|
30
|
44
|
n.a.
|
Dysarthria
Spasticity, lower limb Babinski sign Ataxia, limb Hyperreflexia in upper limbs -Lower limb amyotrophy Cerebellar atrophy Nystagmus Seizures Lower limb muscle weakness Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
7
|
43
|
n.a.
|
Nystagmus
Impaired vibratory sensation Spasticity, lower limb Ataxia, limb Babinski sign Lower limb muscle weakness Abnormality of the bladder Dysarthria Hyperreflexia in upper limbs Show more (+6) |
n.a.
|