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