Skip to main content

Table 1 Clinical symptoms and imaging findings in patients with ATP1A2 mutations

From: Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

Paper

Patient #a

Mutation

Attack #

Days after symptom onsetb

Symptoms at time of imaging (symptoms in between imaging)

Imaging Typee

Imaging Findings

Asghar et al. (2012) [17]

2

Leu to Pro, upstream 1025 bp on the ATP1A2

#1

3

Lethargy, altered mental status, gait difficulties, ataxia, monoparesis, expressive aphasia

MRI

Diffuse cortical edema in affected hemisphere

~ 3 weeks

Unknown

MRI

Unremarkable

Blicher et al. (2016) [6]

1

 

#1

0

Headache, nausea, photophobia, aphasia

T2-FLAIR, DWI;

Perfusion MRI

Nonspecific white matter lesions; hypoperfusion

12

Normal motor function, persistent aphasia/aura (focal seizures)

T2-FLAIR, DWI; APT/CEST-MRI

Hyperintense cortical gray matter; pH decrease in white matter

Guedj et al. (2010) [18]

1

p.935-940del ins Ile

#1

1

cHemiplegia, hypoesthesia, dysarthria, aphasia, visual and sensory disturbances, headache, photophobia, phonophobia, nausea

MRI

Unremarkable

78

Monoparesthesis

MRI

Unremarkable

Hermann et al. (2013) [19]

2

p.Pro979Leu

#1

Unknown

cScotoma, numbness, hemiparesis, headache, fever, seizures

cMRI

Unremarkable

DWI; MRA

Diffuse cortical swelling, abnormal cortical diffusion; “string and beads” arteries

Iizuka et al. (2012) [15]

1

 

#1

2

cConfusion, hemiparesis, visual hallucination, psychiatric symptoms

SPECT

Decreased

3

DWI

Unremarkable

MRA

Prominently increased in Middle Cerebral Artery (MCA)

#2

2

cConfusion, hemiparesis, aphasia, visual-field defect, visual hallucination, psychiatric symptoms

DWI

Unremarkable

SPECT

Increased

3

MRA

Prominently increased in MCA

4

DWI

Unremarkable

T2-FLAIR; SPECT

Mild cortical edema, CSF enhancement; increased

#3

3

cConfusion, hemiparesis, aphasia, visual-field defect, psychiatric symptoms

T2-FLAIR, DWI

Unremarkable

SPECT; MRA

Increased; mildly increased in MCA

#4

1

cConfusion, hemiparesis, aphasia, visual-field defect, visual hallucinations, psychiatric symptoms

T2-FLAIR, DWI

Unremarkable

MRA

Mildly decreased in MCA

2

SPECT

Increased

#5

2

cConfusion, hemiparesis, visual-field defect, visual hallucinations, psychiatric symptoms

T2-FLAIR, DWI

Unremarkable

SPECT

Decreased

#6

1

cDelirium, hemiparesis, aphasia, visual-field defect, visual hallucinations, auditory hallucinations, psychiatric symptoms

T2-FLAIR, DWI

Unremarkable

SPECT

Decreased

2

 

#1

2

cConfusion, hemiparesis, visual-field defect, visual hallucination, psychiatric symptoms

T2-FLAIR, DWI

Unremarkable

SPECT, MRA

Increased in MCA

#2

2

cConfusion, hemiparesis, visual-field defect, visual hallucination, psychiatric symptoms

T2-FLAIR, DWI

Unremarkable

MRA

Mildly increased in MCA

3

SPECT

Increased

Martinez et al. (2016) [9]

1

p.Thr364Met

#1

0

Hemiparesis, aphasia, headache, nausea, photophobia, gaze preference

perfusion CT

Hypoperfusion

3

Worsened aphasia, somnolence, fever

DWI

Unremarkable

Murphy et al. (2018) [20]

2

c.Ala2324Gly in exon 17 p.Tyr775Cys

#1

5d

Headache, photophobia, movement sensitivity, nausea, vomiting, hemiparesis, somnolence, positive Babinski

T2-FLAIR

Cortical edema in affected hemisphere

12d

T2-FLAIR, DWI, T1

Cortical edema in affected hemisphere with associated sulcal effacement, mass effect, restricted diffusion, leptomeningeal enhancement over affected mesial temporal lobe

Rispoli et al. (2019) [21]

1

p.Gly954Arg

1

3

cMigraine, vomiting, hemiparesis, paraesthesias, ataxia, diplopia, acute confusion

T2-FLAIR; MRA

Hyperintensities with mild cortical swelling, sulcal effacement, restricted diffusion, contrast enhancement; lower signal

10

T2-FLAIR

Persistent cortical swelling

Roth et al. (2018) [10]

1

p.Arg908Gln

#1

11

Hemiplegia, somnolence

T2-FLAIR, DWI

Swelling and cortical hyperintensity

#2

2

cHemiplegia, aphasia, drowsiness

T2-FLAIR, DWI, cMRI

Unremarkable

3

Perfusion CT

Increased

9

T2-FLAIR, DWI

Swelling and cortical hyperintensity

15

T2-FLAIR, DWI

Clear improvement

2

p.Arg908Gln

#1

7

Symptom free (presented with headache, vomiting, photophobia, phonophobia, hemiparesis, aphasia)

T2-FLAIR; DWI

Mild cortical hyperintensity; cortical hyperintensity

3

p.Ser220Leu

#1

5

Drowsiness (hemiparesis had resolved)

T2-FLAIR; DWI

Mild swelling and cortical hyperintensity; mild cortical hyperintensity

#2

6

Symptoms almost resolved (hemihypesthesia)

Perfusion CT

Increased

4

p.Arg908Gln

#1

2

Mild aphasia (hemiparesis had resolved)

T2-FLAIR, DWI

Unremarkable

Schwarz et al. (2018) [22]

1

p.Thr364Met

#1

1

Hemiparesis, speech disturbances, headache, fever, confusion, anesthesia

CT, DWI

Unremarkable

MRI; FLAIR

Prominent draining sulcal veins; minimal diffuse thickening in affected cortex

9

Unspecified clinical improvement

DWI

Unremarkable

MRI; FLAIR

Hyperperfusion, reduced draining sulcal veins; minimal diffuse thickening

Toldo et al. (2010)

1

c.1091 C > T (p.Thr364Met) in heterozigosis on exon 9

#1

0

Consciousness impairment, fever, motor deficit, aphasia

MRI

Unremarkable

 

4

MRI- FLAIR; DWI

Cortical swelling in affected hemisphere; hyperintensity

 

11

Motor deficit, aphasia

MRI-FLAIR; DWI

Progressive cortical swelling in affected hemisphere; hyperintensity

 

15

Proton MRI Spectroscopy

Decreased N-acetylaspartate/creatine ratio in affected hemisphere

 

27

99mTc-ECD SPECT

Marked hypoperfusion in affected hemisphere

 

6 months

Resolved

MRI, SPECT

Unremarkable

Wilbur et al. (2017) [24]

1

p.Arg1008Trp

#1

Unknown, 1st image

Seizures without hemiparesis

MRI

Unremarkable

Unknown, 2nd image

Fever, seizures, hemiparesis, unresponsiveness, eye deviation

MRI

Unremarkable

Unknown, 3rd image

Lethargy, vomiting, fever, hemiparesis, seizures

MRI

Subtle atrophy, swelling, diffuse hyperintensities in affected hemisphere

Our patient

1

Pro979Leu

#1

1

Headache, hemiparesis, confusion, aphasia

CT

Unremarkable

2

Headache, hemiparesis, confusion, aphasia, fever

DWI

 

T2-FLAIR

Nonspecific nonenhancing bilateral hyperintensities

4, 7

Persistent symptoms (seizure)

DWI; T2-FLAIR

Diffuse low-level restricted diffusion; prolongation

11

DWI, T2-FLAIR

Hyperintensities

15

DWI

Hyperintensities

T2-FLAIR

Diffuse cortical swelling, mild asymmetric hyperintensities

  1. aPatient number corresponds to the number assigned to patient in original paper for easy reference
  2. bSymptom onset based on our definition
  3. cSummary of clinical symptoms during attack. Original paper did not detail which symptoms were present at time of imaging
  4. dDays 1 and day 8 in hospital. The authors did not specify which symptoms resolved, if any, by the time of either imaging study
  5. eAPT/CEST-MRI amide proton transfer chemical exchange saturation transfer magnetic resonance imaging, cMRI cardiovascular magnetic imaging resonance, DWI diffusion-weighted, MRI FLAIR, fluid-attenuated inversion recovery, MRA magnetic resonance angiography, MRI magnetic resonance imaging, SPECT single-photon emission computed tomography
Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us