Atypical Heidenhain Variant CJD

[flatfish]

Atypical features of dementia in a patient with

Creutzfeldt-Jakob disease


Maria P¹chalska1ABCDEFG, Henryk Kurzbauer2ABDE, Maria Formi*ska-Kapuœcik3ABDE,

Andrzej Urbanik4ABDE, Gra¿yna Bierzy*ska-Macyszyn5BDE, Pawe³ W³aszczuk5BDE

1 Institute of Psychology, University of Gda*sk, Gda*sk, Poland

2 Department of Neurology, Ministerial Hospital, Ministry of Internal Affairs and Administration, Cracow, Poland

3 Eye Surgery Clinic, Specialized Ophthalmological Hospital no. 5, Katowice, Poland

4 Department of Radiology, Collegium Medicum, Jagiellonian University, Cracow, Poland

5 Histopathology Section, Department of Morphology, Medical University of Silesia, Katowice, Poland



Summary

Background: This article describes a Polish patient (female, right-handed, age 68 at onset) diagnosed with the

Heidenhain variant of Creutzfeldt-Jakob Disease (HvCJD), characterized clinically by isolated visual

disturbances with no ocular dysfunction prior to the development of myoclonus and other

symptoms of CJD.

Case Report: Nothing in the history pointed to iatrogenic or acquired CJD, and genetic testing ruled out familial

CJD. The neuroradiological picture (MRI) showed non-specifi c features of cerebral atrophy (cortical

and subcortical). An EEG revealed periodic triphasic sharp waves, particularly in the occipital

lobes, and myoclonus occurring synchronically with generalized periodic epileptiform discharges.

Comprehensive neuropsychological testing documented rapidly progressive dementia, with dysgraphia

and aphasia deteriorating to organic mutism. Post-mortem neuropathological examination

confi rmed spongiform encephalopathy, especially in occipital cortex, with amyloid plaques

but without neurofi brillary tangles.

Conclusions: Over the crucial 6-week period the patient went from “Mild Cognitive Impairment” to a status resembling

the fi nal stages of Alzheimer’s disease, without any evidence of a CVA. The only aspect

of this case that does not fi t the usual criteria for the Heidenhain variant is the fact that the patient

survived over a year in a persistent vegetative state. Ophthalmologists and family physicians

should be aware of the possibility of HvCJD in any patient over 60 presenting with otherwise inexplicable

visual disturbances in the absence of signifi cant ocular pathology, even when other symptoms

of dementia may not be immediately noticeable.



snip...



CONCLUSIONS

In the case reported here, a clinical diagnosis of the Heidenhain

variant of Creuzfeldt-Jakob Disease, initially suggested by the

early and prominent presentation of visual symptoms (ranging

from microopsia and macropsia to visual hallucinations),

and backed by EEG and neuroadiological fi ndings, was con-

fi rmed by neuropathological results. Neuropsychological testing

documented the characteristically rapid course of the disease.

The course of development of clinical symptoms and

their relationship to the ophthalmological and neuroradiological

picture are of considerable theoretical interest.

Ophthalmologists and family physicians should be aware of

the possibility of HvCJD in any patient over 60 presenting

with otherwise inexplicable visual disturbances in the absence

of signifi cant ocular pathology, even when other symptoms

of dementia may not be immediately noticeable. ...



http://www.medscimonit.com/pub/vol_13/no_1/9923.pdf



TSS

[flatfish]

RE-Monitoring the occurrence of emerging forms of Creutzfeldt-Jakob

disease in the United States


Email Terry S. Singeltary:


flounder@wt.net



I lost my mother to hvCJD (Heidenhain Variant CJD). I would like to

comment on the CDC's attempts to monitor the occurrence of emerging

forms of CJD. Asante, Collinge et al [1] have reported that BSE

transmission to the 129-methionine genotype can lead to an alternate

phenotype that is indistinguishable from type 2 PrPSc, the commonest

sporadic CJD. However, CJD and all human TSEs are not reportable

nationally. CJD and all human TSEs must be made reportable in every

state and internationally. I hope that the CDC does not continue to

expect us to still believe that the 85%+ of all CJD cases which are

sporadic are all spontaneous, without route/source. We have many TSEs in

the USA in both animal and man. CWD in deer/elk is spreading rapidly and

CWD does transmit to mink, ferret, cattle, and squirrel monkey by

intracerebral inoculation. With the known incubation periods in other

TSEs, oral transmission studies of CWD may take much longer. Every

victim/family of CJD/TSEs should be asked about route and source of this

agent. To prolong this will only spread the agent and needlessly expose

others. In light of the findings of Asante and Collinge et al, there

should be drastic measures to safeguard the medical and surgical arena

from sporadic CJDs and all human TSEs. I only ponder how many sporadic

CJDs in the USA are type 2 PrPSc?


http://www.neurology.org/cgi/eletters/60/2/176#535

Autopsy hvCJD

http://www.vegsource.com/talk/madcow/messages/7548.html



Volume 12, Number 12–December 2006


PERSPECTIVE

On the Question of Sporadic

or Atypical Bovine SpongiformEncephalopathy and

Creutzfeldt-Jakob Disease

Paul Brown,* Lisa M. McShane,† Gianluigi Zanusso,‡ and Linda Detwiler§

Strategies to investigate the possible existence of sporadic

bovine spongiform encephalopathy (BSE) require

systematic testing programs to identify cases in countries

considered to have little or no risk for orally acquired disease,

or to detect a stable occurrence of atypical cases in

countries in which orally acquired disease is disappearing.

To achieve 95% statistical confidence that the prevalence

of sporadic BSE is no greater than 1 per million (i.e., the

annual incidence of sporadic Creutzfeldt-Jakob disease

[CJD] in humans) would require negative tests in 3 million

randomly selected older cattle. A link between BSE and

sporadic CJD has been suggested on the basis of laboratory

studies but is unsupported by epidemiologic observation.

Such a link might yet be established by the discovery

of a specific molecular marker or of particular combinations

of trends over time of typical and atypical BSE and various

subtypes of sporadic CJD, as their numbers are influenced

by a continuation of current public health measures that

exclude high-risk bovine tissues from the animal and

human food chains.




http://www.cdc.gov/ncidod/EID/vol12no12/06-0965.htm?s_cid=eid06_0965_e




3:00 Afternoon Refreshment Break, Poster and Exhibit Viewing in the Exhibit
Hall


3:30 Transmission of the Italian Atypical BSE (BASE) in Humanized Mouse

Models Qingzhong Kong, Ph.D., Assistant Professor, Pathology, Case Western Reserve
University

Bovine Amyloid Spongiform Encephalopathy (BASE) is an atypical BSE strain
discovered recently in Italy, and similar or different atypical BSE cases
were also reported in other countries. The infectivity and phenotypes of
these atypical BSE strains in humans are unknown. In collaboration with
Pierluigi Gambetti, as well as Maria Caramelli and her co-workers, we have
inoculated transgenic mice expressing human prion protein with brain
homogenates from BASE or BSE infected cattle. Our data shows that about half
of the BASE-inoculated mice became infected with an average incubation time
of about 19 months; in contrast, none of the BSE-inoculated mice appear to
be infected after more than 2 years. ***These results indicate that BASE is
transmissible to humans and suggest that BASE is more virulent than
classical BSE in humans.

6:30 Close of Day One


http://www.healthtech.com/2007/tse/day1.asp




SEE STEADY INCREASE IN SPORADIC CJD IN THE USA FROM
1997 TO 2006. SPORADIC CJD CASES TRIPLED, with phenotype
of 'UNKNOWN' strain growing. ...


http://www.cjdsurveillance.com/resources-casereport.html



There is a growing number of human CJD cases, and they were presented last
week in San Francisco by Luigi Gambatti(?) from his CJD surveillance
collection.

He estimates that it may be up to 14 or 15 persons which display selectively
SPRPSC and practically no detected RPRPSC proteins.


http://www.fda.gov/ohrms/dockets/ac/06/transcripts/1006-4240t1.htm


http://www.fda.gov/ohrms/dockets/ac/06/transcripts/2006-4240t1.pdf


TSS