Can prion disease suspicion be supported earlier? Clinical, radiological and laboratory findings in a series of cases

Figures & data

Figure 1 Bilateral hyperintensities of the basal ganglia in case 1 (A), 4 (B) and 7 (C), compared to a normal control (D).

Figure 2 EEG of (A) Case4, (B) Case 5, (C) Case 6 and (D) control. In contrast to (D), figures (A–C) show triphasic waves (arrows) in a pseudoperiodic or periodic pattern.

Table 1 Demographic, clinical and laboratory findings

Case No.	Age	Gender	Type	Clinical manifestations	14-3-3 Protein	MRI	EEG
1	59	Female	Sp	Personality changes, involuntary movements, speech alterations, cerebellar signs	+	+	SD
2	60	Male	FCJD	Involuntary movements, personality changes, visual hallucinations, cerebellar signs	+	−	PSWC
3	66	Female	Sp	Personality changes, ataxia, atavic signs	NA	+	TW
4	57	Male	FCJD	Involuntary movements, cerebellar ataxia, speech impairment	NA	+	PSWC
5	60	Male	Sp	Personality changes, involuntary movements, left cerebellar ataxia	+	−	PSWC
6	50	Female	Sp	Involuntary movements, cerebellar ataxia	+	+	PSWC
7	38	Female	Sp	Psychiatric manifestations, myoclonus	+	+	TW

Sp, sporadic; F, familial; SD, Slow and diffuse; PSWC, periodic sharp wave complex; TW, triphasic waves.

Table 2 Mexican series of CJD

	González-Duarte 2011 (n = 7)	Velasquez-Pérez 20073 (n = 15)	Calderón-Garcidueñas 20013 (n = 1)4	Martinez-Barros 19955 (n = 3)
Age mean (range)	55 (38–66)	49 (23–75)	50	55 (51–57)
Gender (female)	4 (57%)	8 (53%)	0	3 (100%)
Who probability of diagnosis
Definite (biopsy)	0	3	1	2
Probable (14-3-3 protein)	5	5		0
Possible (MRI/EEG)	2	7		1
Clinical Symptoms
Dementia	4 (57%)	12 (80%)	1 (100%)	1 (33%)
Behavior alterations	3 (42%)	6 (40%)	0	3 (100%)
Mood Depression	2 (28%)	4 (26%)	0	0
Ataxia/incoordination	7 (100%)	5 (33%)	0	3 (100%)
Myoclonus	3 (42%)	6 (40%)	1 (100%)	2 (66%)
Extrapyramidal movements	3 (42%)	9 (60%)	0	1 (33%)
Pyramidal signs	2 (28%)	4 (26%)	0	3 (100%)
Hallucinations	3 (42%)	3 (20%)	0	1 (33%)
Headache	2 (28%)	4 (26%)	0	0
Akinetic mutism	5 (71%)	7 (46%)	0	2 (66%)
Aphasia	0	1 (6%)	0	1 (33%)
Insomnia	3 (42%)			1 (33%)
Tremor	3 (42%)			1 (33%)
Interval between onset-admission	6.4 months (2–12)	71 days (10–210)	15 months	6.5 months (1–24)
Family history	2 (28%)	0	0	0
Birth Place
Mexico City	1 (14%)	7 (47%)	0	1 (33%)
Estado de México	2 (28)	5 (33%)	0
Guerrero	1 (14%)	1 (5.5%)	0
Other States	3 (42%)**	2 (11%)***	1 (100%)****
EEG findings*
PS-SWC	4 (57%)	12 (66%)	0	2 (66%)
TW	2 (28%)	2 (11%)	0	0
SD	1 (14%)	0	0	0
PLEDS	0	0	1 (100%)	1 (33%)
CT/IRM findings
Basal Ganglia HS	6 (86%)	6 (40%)	0	0
Atrophy	1 (14%)	2 (13%)	1 (100%)	1 (33%)
Normal	0	2 (13%)	0	1 (33%)
White matter lesions	0	1 (6%)	0	0
N/A	0	4 (26%)	0	0

* PS-SWC, Periodic Sharp and Slow wave complex; TW, Triphasic waves; SD, Slowly diffuse; PLEDS, Periodic Lateralized Epileptiform Discharges.

** Vercruz, Michoacán, Morelos,

*** Guerrero, Hidalgo, Sonora,

**** Coahuila.

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