Volume 8: Variant CJD
Annex 2: Summary tables on the clinical investigative and pathological data on suspect or confirmed cases of CJD aged less than 50 years

Table 5: SPORADIC CJD

Country	Period	Age Range	Number of cases
Austria	1969-1995	<30	1
Australia	1970-1980	23	1
		34	1
France	1968-1982	<30	2
		30-34	0
		35-39	2
		40-44	7
France	1992-1995	<30	1
Israel	1963-1987	0-29	0
		30-39	4
		40-49	8
Japan	1975-1977	21-30	1
		31-40	3
		41-50	17
Netherlands	1993-1995	<30	1
USA	some cases aged 20-29 and 30-34 (to get more details)
Finland	1974-1989	Youngest sporadic case	50

Table 6:

CONFIRMED CASES OF CJD IN YOUNG PATIENTS WITH PLAQUES

AGE	ONSET	DOD	DURATION	PATHOLOGY
18			>22	Biopsy Plaques
19			11	Plaques
29			10	Biopsy Plaques
29			11	Plaques
29			22.5	Plaques
30			7.5	Plaques
30			17	Plaques
31			>5	Biopsy Plaques
41			21	Plaques

SUSPECT CASES OF CJD IN YOUNG PATIENTS

AGE	ONSET	DOD	DURATION	PATHOLOGY
20			24	N/A
36			>12	Biopsy negative
42			>10	-

Table 7: CLINICAL FEATURES

1.	ANXIETY
	DEPRESSION
	BEHAVIOURAL CHANGE
2.	CEREBELLAR ATAXIA
	± FORGETFULNESS/MEMORY DISTURBANCE
3.	PROGRESSIVE DEMENTIA AND MYOCLONUS
	EEG NOT TYPICAL

Table 8:

Age	Onset	Residence	Duration	Clinical Features	EEG	Genetics?	Pathology	Other details
14	<88	Canada	24	Clumsy and forgetful, truncal and limb ataxia, labile mood, myoclonus	Not typical	No	No plaques	Born in England. No FH of neurological illness
16	6/76	USA	28	Forgetful, behavioural disturbance, choreoathetosis, seizures and myoclonus	? Typical	No	?No plaques	No FH of neurological or psychiatric illness
19	6/82	France	4	Lethargy, insomnia personality change, ataxia, myoclonus	Classical	No	No plaques	No family history
19	<9/91	Poland	10	Loss of memory, confusion, dementia, spasticity and tremor. No myoclonus	Not typical	No	Typical SENo plaques?	No FH of CJD
20	10/78	USA	>3	Behavioural changes, increasing forgetfulness, clumsy, cerebellar signs and myoclonus	Not typical	No	BiopsyNo plaques	Had performed pathology on rhesus monkeys
23	<9/91	Poland	3	Loss of memory, confusion, dementia, cerebellar ataxia No myoclonus	Not typical	No	Typical SENo plaques	No FH of CJDFarmer
23	70-80	Australia	?	?	?	?	?	?
23	~94	Holland	?		Typical	?	No histology
24	<65	Japan	43	Visual hallucinations, psychosis, peripheral sensory disturbance, ataxia, dysarthria, rigidity, hyperreflexia	?	No	Typical SENo plaques	No FH
25	<80	Japan	20	Visual hallucinations, psychosis, peripheral sensory disturbance, ataxia, dysarthria, rigidity, hyperreflexia	?	No	Typical SE No plaques, White matter changes	No FH
26	<75	New Guinea	18	Forgetful, hemianopia, hemiparesis, cerebellar and parkinsonian syndromes, EP and myoclonus	Not typical?	No	Biopsy
26	<77	?USA	?	?		No		Transmitted. Unknown if FH but said to be a 'spontaneous case.' {514}
27	<88	Italy	?	Disturbances of gait and language, quickly followed by intellectual deterioration, tetraplegia, anarthria and myoclonus	?	?	Biopsy typical with odd plaques	Not known if FH
27	<9/91	Poland	3.5	Loss of memory, confusion, dementia, rigidity & myoclonus	Not typical	No	Typical SENo plaques?	No FH of CJDCook
29	<69	Japan	5.5	Diplopia, dysarthria, tremor, ataxia, forgetful, cerebellar signs, myoclonus & akinetic mutism	?	No	Typical SENo plaques	No FH
29	10/75	France	34	Depression, ataxia, pyramidal and cerebellar syndromes, forgetful, rigidity & coma. No myoclonus	Not typical	No	PM ?no plaques	Mother died young of cerebellar angioma
<30	92-95	France	?	?	?	?	?	?
<30	69-95	Austria	?	?	?	?	?	?

Table 9: CONFIRMED CASES OF CJD IN YOUNG PATIENTS WITH PLAQUES

MECHANISM OF REFERRAL
AGE	REFERRAL
18	Direct referral post cerebral biopsy
19	Neuropathologist asked to review cerebral biopsy
29	Direct referral post cerebral biopsy
29	Neurology registrar phoned for advice
29	Following a lecture in which teenage CJD described
30	Direct referral
30	Query about genetic test for CJD
31	Seen by Dr Zeidler in Neurology Clinic
41	Query from immunology laboratory