| 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
Spasticity, lower limb Wheelchair Spastic gait Ataxia, limb Cerebellar atrophy Gait ataxia Babinski sign Dysarthria Lower limb muscle weakness Cognitive impairment Nystagmus Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DNK
|
25
|
39
|
n.a.
|
Dysarthria
Spasticity, lower limb Spastic gait Gait ataxia Babinski sign Abnormality of the bladder Ataxia, limb Cerebellar atrophy Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
n.a.
|
81
|
n.a.
|
Spasticity, lower limb
Wheelchair Lower limb muscle weakness Muscle weakness, upper limb Inability to walk Hyperreflexia in upper limbs Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
DNK
|
30
|
44
|
n.a.
|
Dysarthria
Babinski sign Ataxia, limb Hyperreflexia in upper limbs Nystagmus Seizures Cerebellar atrophy -Lower limb amyotrophy Spasticity, lower limb Lower limb muscle weakness Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
7
|
43
|
n.a.
|
Babinski sign
Lower limb muscle weakness Ataxia, limb Impaired vibratory sensation Nystagmus Abnormality of the bladder Dysarthria Spasticity, lower limb Hyperreflexia in upper limbs Show more (+6) |
n.a.
|