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