Huntington's disease presenting as posterior cortical atrophy

Caixeta, Leonardo

doi:10.1590/s0004-282x2011000300029

Cited by 6 publications

(2 citation statements)

References 5 publications

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“…Similarly, an assortment of genetic mutations should be considered in patients with PCA. While the disease is largely regarded as sporadic, mutations in presenilin 1 and huntingtin genes 5,6 have been described, along with a report of familial prion disease associated with a 5-octapeptide insertion in the prion protein. 7 Recently, mutations in 2 of the 3 most common known genetic causes of frontotemporal lobar degeneration (FTLD)-microtubuleassociated protein tau (MAPT) 8 and progranulin (GRN) 9 -have been identified in patients with PCA, although both reported cases lacked neuropathologic confirmation.…”

Section: Clinical Discussion (Dr Mitchell)mentioning

confidence: 99%

A 63-Year-Old Man With Progressive Visual Symptoms

et al. 2017

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A 63-year-old man presented with a 4-year history of insidious onset and gradual progression of visual symptoms consisting of difficulty with locating objects within a complex visual scene (unable to see things "right in front of him," especially with clutter), impaired navigation while driving, and inability to perform complex motor tasks under visual guidance (ie, unloading the dishwasher). He subsequently developed alexia, agraphia, and acalculia. He was diagnosed as having a right homonymous hemianopsia by a neuroophthalmologist after he was hit by a truck from the right side while riding a bicycle. He later hit a parked car on his right while driving. His memory in daily life was intact. Within the first year of symptom onset, he developed mild language impairment characterized by word finding difficulty, anomia, and eventually mild comprehension deficits with intact repetition and speech production, consistent with transcortical sensory aphasia.His initial neurological examination findings were significant only for a right homonymous hemianopsia, with a notable absence of parkinsonism or asymmetric motor findings. There was no contributory medical history or systemic symptoms.His father developed dementia at age 52 years and died at age 57. The clinical diagnosis was Alzheimer disease (AD), but no autopsy was performed. There was no other significant family history including no history of Parkinson disease or amyotrophic lateral sclerosis.Neuropsychological testing performed 4 years after symptom onset revealed relatively intact memory function with impairments in visuospatial processing including impaired performance on Wechsler Adult Intelligence Scale, Third Edition Matrix Reasoning and clock drawing. There was also evidence of impaired phonemic fluency and word retrieval with intact semantic memory. Subsequent neurological examination findings revealed Bálint syndrome (simultanagnosia, oculomotor apraxia, and optic ataxia) with transcortical sensory aphasia, bilateral limb apraxia (right>left) with cortical sensory loss, and asymmetric rigidity of the right arm and leg.

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Section: Clinical Discussion (Dr Mitchell)mentioning

confidence: 99%

A 63-Year-Old Man With Progressive Visual Symptoms

et al. 2017

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“…This pro gressive dementia initially presents with visual disturbances and is characterized by visuospatial and visual perceptual impairment, visual agnosia, including some or all features of Balint's syndrome and Gerstmann's syndrome, with a later onset of cognitive decline gene rally associated with typical Alzheimer's disease (14) . PCA is assumed as a clinical syndrome in which Alzheimer's disease seems to be the major (but not exclusively) pathologic cause (14) , being also described in associations with Huntingtons' disease (5) , Lewy body dementia, CreutzfeldtJakob disease and corticobasal degeneration (3) . Visual hal lucinations occur in up to 25% of patients who are diagnosed with posterior cortical atrophy (1,4) .…”

Section: Introductionmentioning

confidence: 99%

Posterior cortical atrophy - a prototypical case of dementia beginning with visual symptoms: case report

Caixeta¹,

Taleb²,

Ghini³

et al. 2013

Arq. Bras. Oftalmol.

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Posterior Cortical Atrophy as an Extreme Phenotype ofGRNMutations

et al. 2015

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Figure 2), which is rather different from PCA with AD pathologic features. In the latter process, the damage remains relatively centered on the posterior lobes, even in the late stage. 1,15 Conclusions This study enlarges the mutational spectrum of PCA to GRN mutations and provides evidence that GRN analyses could be indicated in PCA, particularly when the damage progresses to the anterior cerebral regions and a family history of dementia is present. The link between PCA and genetic forms of FTLD is supported by the recent identification of a MAPT mutation in 1 case of PCA. 16 Analyses of genes in FTLD in patient cohorts will be necessary to better evaluate their genetic contribution to PCA. Finally, this study underlines a possible continuum in degenerative dementias and highlights the limits of actual nosologic boundaries. Clarifying these boundaries by identifying factors driving phenotypic heterogeneity will have important implications for the definition of new diagnosis criteria of degenerative dementias and recruitment for clinical trials in the future. ARTICLE INFORMATION

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Huntington's disease presenting as posterior cortical atrophy

Abstract: Figure. MRI (axial and sagittal slices weighted in T1) showing focal bilateral occipital and parieto-occipital atrophy, respectively.

Cited by 6 publications

References 5 publications

A 63-Year-Old Man With Progressive Visual Symptoms

A 63-Year-Old Man With Progressive Visual Symptoms

Posterior cortical atrophy - a prototypical case of dementia beginning with visual symptoms: case report

Posterior Cortical Atrophy as an Extreme Phenotype ofGRNMutations

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