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