Janice L. Holton

Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome (2007)

Williams, David R., Holton, Janice L., Strand, Catherine, Pittman, Alan, De Silva, Rohan, Lees, Andrew J., ...

Clinical syndromes associated with progressive supranuclear palsy-tau pathology now include progressive supranuclear palsy-parkinsonism (PSP-P), in addition to classic Richardson's syndrome (RS) and...

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data (2005)

Khan, Naheed L., Jain, Shushant, Lynch, John M., Pavese, Nicola, Abou-Sleiman, Patrick, Holton, Janice L., ...

We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's...

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism (2005)

Williams, David R., De Silva, Rohan, Paviour, Dominic C., Pittman, Alan, Watt, Hilary C., Kilford, Linda, ...

The clinical diagnosis of progressive supranuclear palsy (PSP) relies on the identification of characteristic signs and symptoms. A proportion of pathologically diagnosed cases do not develop these...

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism (2005)

Williams, David R., De Silva, Rohan, Paviour, Dominic C., Pittman, Alan, Watt, Hilary C., Kilford, Linda, ...

Summary The clinical diagnosis of progressive supranuclear palsy (PSP) relies on the identification of characteristic signs and symptoms. A proportion of pathologically diagnosed cases do not develop...

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data (2005)

Khan, Naheed L., Jain, Shushant, Lynch, John M., Pavese, Nicola, Abou-Sleiman, Patrick, Holton, Janice L., ...

We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's...

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations (2004)

Ozawa, Tetsutaro, Paviour, Dominic, Quinn, Niall P., Josephs, Keith A., Sangha, Hardev, Kilford, Linda, ...

Summary Multiple system atrophy (MSA) has varying clinical (MSA-P versus MSA-C) and pathological [striatonigral degeneration (SND) versus olivopontocerebellar atrophy (OPCA)] phenotypes. To...

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations (2004)

Ozawa, Tetsutaro, Paviour, Dominic, Quinn, Niall P., Josephs, Keith A., Sangha, Hardev, Kilford, Linda, ...

Multiple system atrophy (MSA) has varying clinical (MSA-P versus MSA-C) and pathological [striatonigral degeneration (SND) versus olivopontocerebellar atrophy (OPCA)] phenotypes. To investigate the...

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations (2004)

Ozawa, Tetsutaro, Paviour, Dominic, Quinn, Niall P., Josephs, Keith A., Sangha, Hardev, Kilford, Linda, ...

Summary Multiple system atrophy (MSA) has varying clinical (MSA-P versus MSA-C) and pathological [striatonigral degeneration (SND) versus olivopontocerebellar atrophy (OPCA)] phenotypes. To...

Neurofilament inclusion body disease: a new proteinopathy? (2003)

Josephs, Keith A., Holton, Janice L., Rossor, Martin N., Braendgaard, Hans, Ozawa, Tetsutaro, Fox, Nick C., ...

We describe four cases of a new clinicopathological entity presenting with either a frontotemporal dementia or corticobasal degeneration syndrome with a mean age of onset of 45 years (range 41-50)...

Neurofilament inclusion body disease: a new proteinopathy? (2003)

Josephs, Keith A., Holton, Janice L., Rossor, Martin N., Braendgaard, Hans, Ozawa, Tetsutaro, Fox, Nick C., ...

We describe four cases of a new clinicopathological entity presenting with either a frontotemporal dementia or corticobasal degeneration syndrome with a mean age of onset of 45 years (range 41-50)...

A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

Vidal, Ruben, Révész, Tamas, Rostagno, Agueda, Kim, Eugene, Holton, Janice L., Bek, Toke, ...

Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia....

A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

Vidal, Ruben, Révész, Tamas, Rostagno, Agueda, Kim, Eugene, Holton, Janice L., Bek, Toke, ...

Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia....

Regional Distribution of Amyloid-Bri Deposition and Its Association with Neurofibrillary Degeneration in Familial British Dementia

Holton, Janice L., Ghiso, Jorge, Lashley, Tammaryn, Rostagno, Agueda, Guerin, Christopher J., Gibb, Graham, ...

Familial British dementia (FBD), pathologically characterized by cerebral amyloid angiopathy (CAA), amyloid plaques, and neurofibrillary degeneration, is associated with a stop codon mutation in the...