Table 1

Main features in all cases

No.	Case	Gender	Family history	Age at onset	First symptom	Other signs and symptoms	Insomnia	PET/SPECT	TAC/RM	CSF 14-3-3	DNA test	Time of evolution	Autopsy	Clinico-pathologic phenotype	Immuno-PrP-res
m, months; NP, not performed.
1	1/III-1	F	Yes	43	Depression	Ataxia, dysarthria, vertical nystagmus, abnormal ocular movements, pyramidalism	No	NP	N	NP	D178N 129MV	?	NP	CJD (ataxic)	NP
2	2/IV-3	F	Yes	62	Depression	Ataxia, abnormal ocular movements, pyramidalism, myoclonus, dementia	Yes (late)	NP	N	NP	D178N 129MM	14 m	NP	CJD (ataxic)	NP
3	2/IV-4	M	Yes	55	Acalculia	Afasia, alexia, dementia	No	NP	N	NP	D178N 129MM	12 m	Diffuse	CJD	NP
													spongiform degeneration
4	2/IV-10	F	Yes	54	Ataxia	Diplopia, pyramidalism, dystonia, dementia	Yes (late)	NP	N	NP	D178N 129MM	10 m	NP	CJD (ataxic)	NP
5	2/V-1	F	Yes	41	Anxiety Nervousness	Hallucinations, memory loss, paranoia, insomnia, diaphoresis hyperthermia, tachycardia, dysarthria, nystagmus, myoclonus, dementia	Yes (early)	NP	N	(−)	D178N 129MM	14 m	NP	FFI	NP
6	2/V-6	F	Yes	37	Insomnia	Tremor, diplopia, strabismus, memory loss	Yes (early)	NP	N	NP	D178N 129MM	14 m	NP	FFI	NP
7	3/III-3	M	Yes	48	Apathy Nervousness	Tremor, hyperthermia, sexual dysfunction, insomnia, arterial hypertension, paroxysmal diaphoresis, tachycardia, ataxia, pyramidalism, myoclonus, hallucinations, dementia	Yes (early)	Thalamic hypo-metabolism	N	NP	D178N 129MM	18 m	Thalamo-olivary degeneration, mild cortical and basal ganglia spongiosis	FFI	(−)
8	4/III-5	M	Yes	62	Apraxia	Loss of verbal fluency, apraxia, agraphia, imitation behaviour, dementia	No	Frontal hypo-perfusion	N	+ (haematic CSF)	D178N 129MM	14 m	Diffuse spongiform degeneration	CJD	(+)
9	4/III-6	M	Yes	54	Blurred vision Diplopia	Nystagmus, ocular flutter insomnia, ataxia, dysarthria, dementia	Yes (early)	Thalamic hypo-perfusion	N	(−)	D178N 129MM	14 m	Thalamo-olivary degeneration	FFI	(−)
10	5/III-1	M	Yes	58	Ataxia	Arterial hypertension, tachycardia, irregular respiration, dementia	No	N	N	NP	D178N 129MV	40 m	NP	CJD (ataxic)	NP
11	5/III-2	M	Yes	50	Ataxia	Abnormal ocular movements, dysarthria, depression, insomnia, nocturnal agitation, weight loss, diaphoresis, dementia	Yes (early)	N	N	NP	D178N 129MV	19 m	NP	FFI	NP
12	6/II-5	F	Yes	76	Insomnia	Dysarthria, diaphoresis, inattention, disorientation, gait ataxia, dementia	Yes (early)	NP	N	NP	D178N 129MM	8 m	Thalamic, olivary and cerebellar degeneration	FFI	(+)
13	6/II-7	F	Yes	69	Ataxia	Dysarthria, dysmetria, dysphagia	No	NP	N	NP	D178N 129MM	18 m	NP	CJD	NP
14	6/III-9	F	Yes	43	Depression Apathy Anxiety	Weight loss, hyperthermia, diaphoresis, tremor, dysarthria, ataxia, Myoclonus, pyramidalism, dementia	No	?	?	NP	D178N 129MM	12 m	Thalamo-olivary degeneration, mild cerebellar changes	FFI	(−)
15	6/III-12	F	Yes	38	Anxiety Nervousness	Tremor, dysarthria, ataxia, memory loss	No	NP	N	NP	D178N 129MM	10 m	NP	CJD	NP
16	7/IV-5	F	Yes	59	Anxiety	Diurnal hypersomnia, nocturnal insomnia, inattention, tremor, myoclonus, dementia	Yes (early)	Thalamic hypo-metabolism	N	(−)	D178N 129MM	12 m	Thalamo-olivary degeneration	FFI	(+)
17	7/IV-10	M	Yes	38	Memory loss	Ataxia, visual disturbances, pyramidalism, dysmetria, startle reaction, hypertermia, diaphoresis, hypersomnia, dementia	No	NP	N	NP	D178N 129MV	15 m	NP	CJD	NP
18	8/III-1	M	Yes	54	Insomnia	Hypersomnia, restless sleep, diplopia, myoclonus, asterixis, startle reaction, memory loss, dementia	Yes (early)	NP	N	NP	D178M 129MM	6 m	Thalamo-olivary degeneration	FFI	NP
19	9/II-3	F	No	62	Ataxia Diplopia	Insomnia, hallucinations, delirium, nocturnal agitation, dysmetria	Yes (early)	N	Basal ganglia hyper signal	NP	D178N 129MM	6 m	Diffuse spongiform degeneration	FFI	(+)
20	10/III-2	M	Yes	54	Ataxia	Dysarthria, myoclonus, pyramidalism, hallucinations, dementia	No	NP	N	(−)	D178N 129MV	15 m	Thalamo-olivary degeneration, mild cortical spongiosis	FFI	(−)
21	11/III-1	F	Yes	56	Blurred vision	Anxiety, dysarthria, dysphagia, tremor, diplopia, dysmetria, ataxia, memory loss	No	NP	N	NP	D178N 129MM	20 m	Olivo-cerebellar degeneration	CJD	(−)
22	12/III-1	M	Yes	58	Memory loss	Insomnia, diaphoresis, tremor, myoclonus, dementia	Yes (early)	Thalamic hypo-perfusion	N	(−)	D178N 129MM	8 m	Thalamic, olivary and cerebellar degeneration	FFI	(−)
23	15/II-2	F	No	71	Aphasia	Sensory and visual right neglect, pyramidalism, myoclonus, disorientation, agitation, mutism, dementia	No	NP	N	(+)	D178N 129MV	2 m	Diffuse spongiform degeneration	CJD	(+)