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