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