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