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