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