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Dementia and myoclonus Differential diagnosis of early-onset alzheimer's disease.

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Dementia and Myoclonus:
Differential Diagnosis of
Earlv-Onset Alzheimer’s
Failure of Cytarabine/
Interferon Theram in
Progressive Mul&ocal
Samuel F. Berkovic, MD, Michel Melanson, MD,
and Frederick Andermann, MD, FRCP(C)
W. Heide, MD, D. Kompf, MD, E. Reusche, MD,
M. Bodemer, and T. Weber, M D
Increasing attention has been paid to the prominence of myoclonus in Alzheimer’s disease of early onset. This was particularly striking in many family members affected by autosomal
dominant Alzheimer’s disease linked to chromosome 14, as
recently reported by Haltia and colleagues { 11 and by Lampe
and associates [2] and discussed in the editorial by Bird [3].
Here onset was in the fourth or fifth decade with the presenting feature being cognitive decline with prominent seizures
and myoclonus. In the differential diagnosis they emphasized
Jakob-Creutzfeldt disease.
We recently encountered 2 sporadic patients with progressive myoclonus epilepsy and dementia beginning around age
30 years, in whom the differential diagnosis included Kufs’
disease, myoclonic epilepsy and ragged-red fibers (MERRF),
and the extremely rare disorders late-onset Lafora disease
and atypical inclusion body disease [41. To our surprise, Alzheimer’s disease was diagnosed by brain biopsy in 1 and autopsy in the other.
Depending on the mode of presentation, such rare patients
may be referred to epileptologists or behavioral neurologists.
Epileptologists must now consider Alzheimer’s disease in the
differential diagnosis of adult-onset progressive myoclonus
epilepsy, a syndrome where seizures and myoclonus are usually the presenting manifestations but where cognitive impairment also occurs. Behavioral neurologists should consider the aforementioned disorders in sporadic or familial
cases of early dementia with myoclonus. In particular, families with dominantly inherited dementia and myoclonus
should not be assumed to have Alzheimer’s disease, as Kufs’
disease can show autosomal dominant inheritance, and
MERRF with maternal inheritance can mimic autosomal
dominant transmission [ 4 ] .
Recently, Steiger and colleagues 11) reported a rare case of
progressive multifocal leukoencephalopathy (PML) associated with sarcoidosis, who improved and stabilized on treatment with cytarabine and interferon-a. We used the same
regimen in a similar case without beneficial effect.
After an 11-year history of pulmonary sarcoidosis, a 47year-old man slowly developed dysarthria, severe right hemiparesis, and aphasia. Blood tests showed mild T4-lymphopenia with an inverted CD4iCD8 ratio of 0.8. Cerebrospinal
fluid (CSF) was normal, except oligoclonal IgG bands; using
a nested primer polymerase chain reaction (PCR), a positive
signal of JC-viral UCV) D N A was obtained in a second CSF
sample. Magnetic resonance images showed typical lesions
121 in the left more than the right frontocentral white matter,
without mass effect or contrast enhancement. Diagnosis of
PML was confirmed by stereotactic brain biopsy; histology
revealed typical spongiform white matter degeneration,
foamy macrophages, bizarre reactive astrocytes, and enlarged
oligodendrocytes with JC virions in their swollen basophilic
nuclei (Fig). JCV D N A was identified in these oligodendrocytes by in situ hybridization [l}.
Montreal Neurological Institute and Hospital
Montreal, Quebec H 3 A 2B4, Canada
Department of Neurology
Austin Hospital
Heidelberg (Melbourne), Victoria 3084, Australia
1. Haltia M, Viitanen M, Sulkava R, et al. Chromosome 14encoded Alzheimer’s disease: genetic and clinicopathological description. Ann Neurol 1994;36:362-367
2. Lampe TH, Bird TD, Nochlin D, et al. Phenotype of chromosome 14-linked familial Alzheimer’s disease in a large kindred.
Ann Neurol 1994;36:368-378
3. Bird TD. Familial Alzheimer’s disease. Ann Neurol 1994;36:
4. Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia
1 9 9 3 ; 3 4 ( ~ ~ p3):S19-S30
Electron microscopy of an infected oligodendrocyte: swollen nucleus (bottom: x 3,750: bar equals 4,000 nmi with a vacuolelike intranuclear inclusion, containing cvystalloid aggregates of
virzons of about 40-nm diameter iwindow enlarged on the top:
x 56,000: bar = 250 nm).
Copyright 0 1095 by the American Neurological Association
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dementia, differential, myoclonus, disease, alzheimers, diagnosis, early, onset
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