Variable phenotype of Alzheimer's disease with spastic paraparesis (Q36998026)

17 August 2017

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title

Variable phenotype of Alzheimer's disease with spastic paraparesis (English)

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17 August 2017

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William S Brooks

2

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Jillian J. Kril

Jillian J Kril

5

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Peter R Schofield

Peter R Schofield

8

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Glenda Halliday

Glenda M Halliday

7

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Helena Karlström

1

Helena Karlstrom

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17 August 2017

3

John B J Kwok

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6

Heather McCann

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4

G Anthony Broe

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17 August 2017

language of work or name

English

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publication date

6 November 2007

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Journal of Neurochemistry

17 August 2017

published in

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17 August 2017

volume

104

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17 August 2017

issue

3

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17 August 2017

page(s)

573-583

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Morphologically distinct plaque types differentially affect dendritic structure and organisation in the early and late stages of Alzheimer's disease

17 August 2017

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A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

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Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.

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The hereditary spastic paraplegias: nine genes and counting

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Amyloid, the presenilins and Alzheimer's disease

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Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

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SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

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The presenilins and Alzheimer's disease

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Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

21 January 2018

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Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

21 January 2018

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Cotton wool plaques in non-familial late-onset Alzheimer disease

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Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

21 January 2018

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Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques.

21 January 2018

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Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

21 January 2018

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Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis

21 January 2018

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Structure and function of amyloid in Alzheimer's disease

21 January 2018

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Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

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Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

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Mutant genes in familial Alzheimer's disease and transgenic models

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Alzheimer disease PS-1 exon 9 deletion defined.

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Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

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PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier

21 January 2018

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Variable phenotype of Alzheimer's disease with spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05038.X

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques

21 January 2018

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Alzheimer's disease with spastic paresis and cotton wool type plaques

21 January 2018

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Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

21 January 2018

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Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype

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Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy

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Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

21 January 2018

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Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.

21 January 2018

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Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

21 January 2018

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Autosomal recessive spastic ataxia of Charlevoix–Saguenay

21 January 2018

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10.1111/J.1471-4159.2007.05038.X

21 January 2018

Identifiers

DOI

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17 August 2017

1 reference