Table 1 Demographic features, symptomatology, age of symptom onset and neurological examination, investigation findings of the patients
Patient | Patient 1 | Patient 2 | Patient 3* | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|---|
Age at diagnosis | 76 | 72 | 67 | 62 | 57 | |
Gender | female | male | male | male | male | |
Age at onset | 45 | 42 | 35 | 36 | 33 | |
First symptom | chronic cough | chronic cough | chronic cough | chronic cough | chronic cough | |
Cerebellar | imbalance (52) | imbalance (53) | imbalance (57) | imbalance (51) | imbalance (52) | |
dysmetria dysdiadochokinesia (56) | dysmetria dysdiadochokinesia (58) | dysarthria (60) | ||||
dysarthria (60) | dysarthria (63) | |||||
Symptoms (age at onset) | Sensory | paresthesia (50) | paresthesia (49) | paresthesia (55) | paresthesia (48) | paresthesia (50) |
Ocular | oscilopsia (55) | oscillopsia (53) | oscillopsia (60) | oscillopsia (51) | oscillopsia (52) | |
Autonomic | unknown | unknown | erectile dysfunction (62) | erectile dysfunction (62) | absent | |
Chronic cough | present (45) | present (42) | present (35) | present (36) | present (33) | |
Neurological examination | dysarthria, ataxia | dysarthria, ataxia | mild dysarthria | |||
need assistance for ambulation (65) | need assistance for ambulation (63) | mild ataxia | mild ataxia | clumsy in tandem walking | ||
dysmetria | dysmetria | unable to walk tandem | clumsy in tandem walking | |||
dysdiadochokinesia | dysdiadochokinesia | HIT+/+ | HIT+/+ | HIT+/+ | ||
HIT+/+ | HIT+/+ | |||||
SARA score | 32 | 28 | 13 | 10 | 5 | |
MRI | - | - | cerebellary atrophy involving vermis | cerebellary atrophy involving vermis | cerebellary atrophy involving vermis | |
NCS | - | - | sensory axonal neuropathy | sensory axonal neuropathy | sensory axonal neuropathy |