Corticonigral degeneration with neuronal achromasia presenting with primary progressive aphasia: Ultrastructural and immunocytochemical studies

doi:10.1016/0022-510X(94)90072-8

Journal of the Neurological Sciences

Volume 127, Issue 2, 20 December 1994, Pages 186-197

https://doi.org/10.1016/0022-510X(94)90072-8 Get rights and content

Abstract

We describe a clinico-pathological variant of a degenerative disorder involving Broca's, Wernicke's, and supplementary motor areas, which presented as primary progressive aphasia, dysarthria, bucco-facial apraxia, and hearing loss as initial symptoms, followed by organic personality changes. Postmortem examination revealed severe focal atrophy of the cerebral convolutions in the frontal operculum, superior frontal gyrus, and superior and transverse temporal gyri in addition to diffuse atrophy of the frontal and temporal lobes in both hemispheres. Microscopical examination revealed argyrophilic neuronal inclusions (ANIs) in the neuronal perikarya and presynaptic terminal throughout the central nervous system, as well as neuronal loss and swollen chromatolytic neurons in the affected cortices. Neocortical ANIs showed a positive immunoreaction with an anti-tau antibody but only a weak reaction with an anti-ubiquitin antibody immunohistochemically. Ultrastructurally, neocortical ANIs consisted of 15-nm thick smooth-surfaced tubules and tubules with constrictions at 120–150-nm intervals; thus they were different from the typical paired helical filaments of the 80-nm interval constrictions observed in the subiculum. ANIs were also found in the basal ganglia, brain stem nuclei, and cervical cord. Accordingly, ANIs appear distinct from neurofibrillary tangles (NFTs) of progressive supranuclear palsy, NFTs of Alzheimer-type dementia, and Pick bodies. The authors consider that this case fits the histopathological criteria of corticonigral degeneration with neuronal achromasia except for the unusual extension to the temporal lobes.

References (43)

A.L. Holland et al.
The dissolution of language in Pick's disease with neurofibrillary tangles: a case study
Brain Language
(1985)
C.F. Lippa et al.
Corticonigral degeneration with neuronal achromasia
A clinicopathologic study of two cases
J. Neurol. Sci.
(1990)
T. Akashi et al.
Severe cerebral atrophy in progressive supranuclear palsy: a case report
Clin. Neuropathol.
(1989)
K. Arima
Involvement of subcortical nuclei and brain stem in Pick's disease: a topographical study of Pick bodies
Neuropathology (Kyoto)
(1989)
K. Arima et al.
Distribution of the Pick bodies in the central nervous system of Pick's disease with special reference to their association with neuronal loss
Psychiat. Neurology. Jap.
(1987)
K. Arima et al.
Presenile dementia with progressive supranuclear palsy tangles and Pick bodies; an unusual degenerating disorder involving the cerebral cortex, cerebral nuclei, and brain stem nuclei
Acta Neuropathol. (Berl.)
(1992)
K. Arima et al.
Neurofibrillary tangles of progressive supranuclear palsy in the dentate fascia: an ultrastructural study of a case
Neuropathology (Kyoto)
(1992)
M.J. Ball
Topography of Pick inclusion bodies in hippocampi of demented patients
J. Neuropathol. Exp. Neurol.
(1979)
M. Cole et al.
Familial aphasia due to Pick's disease
Ann. Neurol.
(1979)
W.R. Gibb et al.
Corticobasal degeneration
Brain
(1989)

N.R. Graff-Radford et al.

Progressive aphasia in a patient with Pick's disease: a neuropsychological, radiologic, and anatomic study

Neurology

(1990)

J. Green et al.

Progressive aphasia: a precursor of global dementia?

Neurology

(1990)

H. Karbe et al.

Profiles of language impairment in primary progressive aphasia

Arch. Neurol.

(1993)

S. Kato et al.

Comparative immunohistochemical study on the expression of αB crystallin, ubiquitin, and stress-response protein 27 in ballooned neurons in various disorders

Neuropathol. Appl. Neurobiol.

(1992)

HS Kirshner et al.

Progressive aphasia without dementia: two cases with focal spongiform degeneration

Ann. Neurol.

(1987)

K. Kobayashi et al.

Progressive dysphasic dementia with localized cerebral atrophy: report of an autopsy

Clin. Neuropathol.

(1990)

C.F. Lippa et al.

Primary progressive aphasia with focal neuronal achromasia

Neurology

(1991)

J. Lowe et al.

Ballooned neurons in several neurodegenerative diseases and stroke contain α B crystallin

Neuropath. Appl. Neurobiol.

(1992)

M.M. Mesulam

Slowly progressive aphasia without generalized dementia

Ann. Neurol.

(1982)

M.M. Mesulam

Primary progressive aphasia — Differentiation from Alzheimer's disease (Editorial)

Ann. Neurol.

(1987)

G. Mingazzini

On aphasia due to atrophy of the cerebral convolutions

Brain

(1913)

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Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), previously described as Parkinsonian syndromes are also cognitive disorders, and biologically related to the frontotemporal dementia or Pick's disease. PSP and CBD overlap clinically, pathologically and genetically, sharing tau haplotypes and mutations. In our series of CBD/PSP patients with cognitive presentation (n = 36), primary progressive aphasia (PPA) was particularly common, but behavioral onset occurred also. CBD or PSP as motor presentations developed significant language disorder in 17/19. The underlying pathology is predictably tau positive in these clinical combinations, regardless of the presentation. Other cognitive features of CBDS include apraxia, alien hand and apathy, but often frontal lobe dementia with disinhibition develops also. CBDS also has visuospatial deficit, because of the parietal involvement. PSP was considered the prototype of subcortical dementia, with bradyphrenia, poor recall and executive deficit, but cortical features were recognized to be important also. Language testing and a behavioral inventory should be part of neuropsychological tests to facilitate diagnosis and to quantify the deficit. The clinical, genetic and pathological relationship is strong between CBD /PSP and the aphasic and behavioral components of the Pick complex.
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Citation Excerpt :
In most cases, however, neuronal loss is not apparent (Kikuchi et al., 1999; Iwasaki et al., 2005). The expanded cytoplasm of the cortical ballooned cells is very weakly argyrophilic and stains positively and strongly for phosphorylated neurofilaments (Dickson et al., 1986; Smith et al., 1992; Arima et al., 1994) that do not extend into the swollen proximal processes of the ballooned neurons. They are also immunoreactive for alpha β‐crystalline (Kato et al., 1992; Lowe et al., 1992), heat shock protein 27 (Kato et al., 1992) and variably with antibodies to ubiquitin on epitopes different from AD's NFTs (Dickson et al., 1986; Feany and Dickson, 1995; Halliday et al., 1995).
This chapter emphasizes that corticobasal degeneration (CBD) is a rare progressive neurodegenerative disease. It is a rare disease with variable clinical presentations that requires neuropathological confirmation for definite diagnosis. It is classified as a tauopathy but it is not clearly associated with a mutation of the tau gene, although there is a strong association with the H1 tau gene haplotype. The neuropathological criteria for the diagnosis of CBD include core and supportive features. The core features include focal cortical neuronal loss, substantia nigra neuronal loss, cortical and striatal Gallyas/tau-positive neuronal and glial lesions and astrocytic plaques and threads in both white and gray matter. The supportive neuropathological features are cortical atrophy, commonly with superficial spongiosis, ballooned neurons in the atrophic cortices and tau-positive oligodendroglial coiled bodies. The chapter also reviews that the most characteristic tau-positive lesion in CBD in the cortex, is the astrocytic plaque, which differs from the tau-positive tufted astrocytes seen in PSP, where the tau-positive material is localized primarily to the astrocytic perikarya and proximal processes.
Multi-infarct disorder presenting as corticobasal degeneration (DCB): Vascular pseudo-corticobasal degeneration?
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Nous rapportons les observations de cinq patients, dont la présentation évoquait le diagnostic de dégénérescence cortico-basale : syndrome parkinsonien d’aggravation progressive, asymétrique, résistant à la L-DOPA, associé de façon variable d’un patient à un autre à une apraxie, des myoclonies d’action focales, une dystonie focale, des troubles de la sensibilité corticale, ou une apraxie diagonistique. L’anamnèse de plusieurs patients était toutefois atypique, notamment par l’apparition brusque de certains des symptômes. L’imagerie par résonance magnétique cérébrale a révélé des lésions vasculaires étendues. Sans pouvoir exclure une authentique maladie neurodégénérative chez ces patients, nos cas font envisager que des infarctus cérébraux puissent mimer ou modifier l’expression clinique d’une dégénérescence cortico-basale.
We report on five patients with a clinical presentation of corticobasal degeneration (CBD), including gradually progressive, asymmetric, L-DOPA-resistant parkinsonism associated variously with apraxia, focal action myoclonus, focal dystonia, cortical sensory loss and alien limb phenomenon. Some patients also presented an atypical CBD clinical history or signs — notably sudden onset. The disease was however not suggestive of another diagnosis. Magnetic resonance imaging of the brain revealed extensive vascular lesions. Only five similar cases have been published to our knowledge. Although we cannot exclude underlying CBD pathology, our cases illustrate the fact that multi-infarct pathology can masquerade as CBD or alter the clinical phenotype of the disease.
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We divided 40 patients with CBDS according to motor or cognitive onsets and conducted detailed language assessments with the Western Aphasia Battery (WAB). We analyzed scores according to the side of atrophy and motor rigidity. Longitudinal performance over three annual assessments was compared against matched patients with PPA and Alzheimer disease.
Language at baseline was more impaired in cognitive than motor-onset CBDS but there was no correlation between the side of atrophy or motor impairment and the WAB. Serial assessment (n = 19) showed a similar evolution of aphasia in cognitive-onset CBDS and PPA and delayed aphasia in motor-onset CBDS.
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^☆: This study was presented in abstract form at the 12th International Congress of Neuropathology, September 20, 1994 (Brain Pathology, 4 (1994) 515).

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Research articleCorticonigral degeneration with neuronal achromasia presenting with primary progressive aphasia: Ultrastructural and immunocytochemical studies☆

Abstract

Brain Language

J. Neurol. Sci.

Severe cerebral atrophy in progressive supranuclear palsy: a case report

Clin. Neuropathol.

Involvement of subcortical nuclei and brain stem in Pick's disease: a topographical study of Pick bodies

Neuropathology (Kyoto)

Distribution of the Pick bodies in the central nervous system of Pick's disease with special reference to their association with neuronal loss

Psychiat. Neurology. Jap.

Presenile dementia with progressive supranuclear palsy tangles and Pick bodies; an unusual degenerating disorder involving the cerebral cortex, cerebral nuclei, and brain stem nuclei

Acta Neuropathol. (Berl.)

Neurofibrillary tangles of progressive supranuclear palsy in the dentate fascia: an ultrastructural study of a case

Neuropathology (Kyoto)

Topography of Pick inclusion bodies in hippocampi of demented patients

J. Neuropathol. Exp. Neurol.

Familial aphasia due to Pick's disease

Ann. Neurol.

Corticobasal degeneration

Brain

Progressive aphasia in a patient with Pick's disease: a neuropsychological, radiologic, and anatomic study

Neurology

Progressive aphasia: a precursor of global dementia?

Neurology

Profiles of language impairment in primary progressive aphasia

Arch. Neurol.

Comparative immunohistochemical study on the expression of αB crystallin, ubiquitin, and stress-response protein 27 in ballooned neurons in various disorders

Neuropathol. Appl. Neurobiol.

Progressive aphasia without dementia: two cases with focal spongiform degeneration

Ann. Neurol.

Progressive dysphasic dementia with localized cerebral atrophy: report of an autopsy

Clin. Neuropathol.

Primary progressive aphasia with focal neuronal achromasia

Neurology

Ballooned neurons in several neurodegenerative diseases and stroke contain α B crystallin

Neuropath. Appl. Neurobiol.

Slowly progressive aphasia without generalized dementia

Ann. Neurol.

Primary progressive aphasia — Differentiation from Alzheimer's disease (Editorial)

Ann. Neurol.

On aphasia due to atrophy of the cerebral convolutions

Brain

Research article
Corticonigral degeneration with neuronal achromasia presenting with primary progressive aphasia: Ultrastructural and immunocytochemical studies☆