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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