Table 1 CACNA1A R583Q reported mutation in FHM/SHM associated with ataxia in literature

Battistini et al. [7]

Family

3/11

17–40 years

Typical paroxysmal manifestations of HM. 1 pt asymptomatic for HM

12–24/year

Minutes–72 h

Permanent cerebellar ataxia

1 proband with episodes of severe migraine associated with confusion and fever

60 years

Cerebellar atrophy

Ducros et al. [3]

Population

16/117

11.7 ± 8.1 mean ± DS

13/16 HM

N.r.

0.5–125 h

Permanent cerebellar ataxia. In 13/16 pts

Ataxia without nystagmus

N.r.

N.r.

Terwindt et al. [8]

Population

1/27

13 years

Migraine attacks with aphasia, hemiparesis, and confusion

N.r.

<1 h

Permanent cerebellar ataxia

–

N.r.

Normal

Alonso et al. [5]

Family

17 pts from a family

3–23 years

9/17 pts with HM

2/year

24 h

No

Episodes of altered consciousness, focal neurological deficits precipitated or not by minor head trauma

16–50 years

Cerebellar atrophy

Thomsen et al. [6]

Population based

11/291

5–44 years

HM in 8 pts with nausea, vomiting, photofobia and phonofobia. Headache always accompanying attacks

1–8/year

1–48 h

Permanent cerebellar ataxia in 13 pts

Three non affected relatives carried the mutation

N.r.

Cerebellar atrophy in 1 pt

Our case

Case report

1

13 years

HM with transient left hemiparesis, vision loss and paresthesia in right limbs

6/year

<1

Permanent cerebellar ataxia

Decreased level of consciousness, dysarthria, vision loss and sensory deficit alternating in limb side

50 years

Cerebellar atrophy