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