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