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Additional file 2: Table S2. Overview of clinical data for patients tested using the NGS panel with
a clinical diagnosis of CADASIL.
Patient ID
Age
Gender
C-1
37
F
C-2
17
F
C-3
47
M
C-4
67
M
C-5
58
F
C-6
C-7
51
65
F
F
C-8
C-9
37
62
F
F
C-10
C-11
74
42
F
F
C-12
56
F
C-13
56
M
C-14
33
M
C-15
52
F
C-16
C-17
C-18
C-19
65
55
21
46
F
M
F
F
C-20
C-21
54
54
F
F
Clinical Phenotype
Long history of migraine, headaches and cognitive symptoms.
white matter changes on MRI
Vestibular migraines, dizziness, crawling sensation on skin,
nausea, imbalance most days for several hours. Phx
amikacin/gentamycin caused deafness 2004
Positive skin biopsy for CADASIL on EM, two daughters with
intellectual handicap
Overlapping symptoms between Familial hemiplegic migraine
and CADASIL, Diagnosis was FHM but neurologist requested
both Familial Hemiplegic Migraine (CACNA1A, ATP1A2 and
SCN1A) and NOTCH3 gene testing
Unusual reaction to a psychotropic agent followed by a period of
confusion, resembling a rapid dementia, however, patient
recovered fully. MRI scan showed extensive white matter
disease resembling CADASIL. Skin biopsy performed and
considered positive. Patient does not suffer from migraine, has
had no strokes and does not appear to be dementing.
Positive skin biopsy for CADASIL, migraines, TIA,s, CVA family
history (see pedigree)
Positive skin biopsy, dementia and positive MRI
Equivocal skin biopsy for CADASIL, headaches-cause unclear,
Coronary artery spasm,
positive skin biopsy for CADASIL
Family history of cadasil and positive skin biopsy in patient and
two first degree relatives
Small vessel changes, ataxia type 1
Two cerebrovascular events, MRI shows subcortical
lecoencephalopathy and positive skin biopsy
CADASIL-Like illness, white matter abnormality, migraine,
seizures and probable cognitive change. Skin biopsy change
Father has CADASIL, positive skin biopsy and familial mutation
found in exon 9.
Overlapping symptoms between Familial Hemiplegic Migraine
and CADASIL, Diagnosis was FHM but neurologist requested
both Familial Hemiplegic Migraine (CACNA1A, ATP1A2 and
SCN1A) and NOTCH3 gene testing
Has attacks of speech disturbance in which speech is disrupted
for several days but comprehension unaffected. Suffers from
migraine. EEG, MRI and CT scan showed no abnormality.
Clinical information not available
Recurrent hemiparesis
Headaches, weakness, MRI white matter changes
Recurrent migrainous events, TIAs and strokes with subcortical
white matter ischaemic changes. Warfarin has improved
frequency of her symptoms. Family history of cardiovascular
events. Positive skin biopsy.
TIAs improved by anticoagulants ceased. MRI subcortical
C-22
52
F
C-23
56
M
C-24
54
M
C-25
51
M
C-26
C-27
38
46
M
F
C-28
C-29
60
66
M
F
C-30
C-31
C-32
C-33
17
65
39
61
M
F
F
F
C-34
C-35
C-36
C-37
59
43
60
52
F
F
M
F
C-38
C-39
C-40
58
55
65
F
M
F
C-41
C-42
60
47
F
F
C-43
C-44
39
52
M
F
changes, family history with two first degree relatives
Clinical information not available
Several stokes, speech disturbance, white matter changes on
MRI
Subcortical infarct type changes on MRI, atypical migraine,
mother CVA aged 62, maternal uncle dementia aged 60, another
uncle CVA
Hemiparetic migraine, CVAs, MRI with matter changes, negative
skin biopsy
MRI changes, frontal occipital periventricular, headaches,
lethargy memory loss,
Monophasic demyelinating disease, subcortical stroke
Life-long history of headaches, TIAs or seizures with transient
loss of motor function. CT scan with periventricular white matter
changes. Mother died of CVA aged 50's. Family history of
migraine
Positive skin biopsy
Seizures, behavioural disorder, MRI shows white matter hyper
intensity both cerebral hemispheres, including temporal polar
lobes
CNS demyelination/ stroke
Clinical information not available
Clinical diagnosis of CADASIL
Cognitive decline, MRI shows extensive confluent white matter
change and cortical atrophy. Family History of stroke, dementia
and migraine.
Cognitive impairment, MRI appearance consistent with CADASIL
Clinical information not available
Negative skin biopsy
Progressive neurological disorder, MELAS, CADASIL ,
Mitochondrial OR Metabolic Syndrome
Clinical information not available
Clinical information not available
Dementia, seizures, extensive white matter changes in typical
CADASIL distribution, identified twin sibling has confusion and
cognitive decline over past 2 years, sister’s MRI shows nonspecific white matter changes
CADASIL diagnosis and MRI confirmed.
Family history, paternal grandfather, father both with early
strokes. Uncle and brother both have genetic confirmation of
CADASIL.
Family history of CADASIL, positive skin biopsy in patient.