Alzheimer’s disease (AD) with spastic paraparesis

Genetics

• This is a familial form of Alzheimer’s disease (AD)
• It is caused by mutations in the PSEN1 (Presenilin-1) gene
• The transmission is autosomal dominant
• The onset age is in the 4th to 6th decades

Neurological features

Psychiatric features

Magnetic resonance imaging (MRI): features

Pathology: cotton wool plaques (CWP)

References

1. Karlstrom H, Brooks WS, Kwok JB, et al. Variable phenotype of Alzheimer's disease with spastic paraparesis. J Neurochem 2008; 104:573-583.
2. Sinha N, Grimes D, Tokuhiro S, Sato C, Rogaeva E, Woulfe J. Variant Alzheimer's disease with spastic paraparesis and supranuclear gaze palsy. Can J Neurol Sci 2013; 40:249-251.
3. Tabira T, Chui DH, Nakayama H, Kuroda S, Shibuya M. Alzheimer's disease with spastic paresis and cotton wool type plaques. J Neurosci Res 2002; 70:367-372.
4. Brooks WS, Kwok JB, Kril JJ, et al. Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions. Brain 2003; 126:783-791.
5. Dumanchin C, Tournier I, Martin C, et al. Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat 2006; 27:1063.

Related checklists

• Alzheimer’s disease (AD): variants classification
• Posterior cortical atrophy (PCA)
• Alzheimer’s disease (AD) with normal pressure hydrocephalus (NPH)
• Suspected non-Alzheimer disease pathophysiology (SNAP)