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