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Table 1 Clinical characteristics of spastic paraparesis patients identified with a pathogenic PSEN1 variant in this cohort

From: Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis

Pedigree

  

Q397

    

R963

Patient

III-3

III-7

III-9 (Index)

III-11

IV-3

IV-8

IV-9

Index

PSEN1 variant

c.1157T>C (p.F386S)

c.850C>T (p.P284S)

Initial symptom

Cognitive decline

Spastic paraparesis

Spastic paraparesis

Spastic paraparesis

Personality change

Spastic paraparesis

Spastic paraparesis

Spastic paraparesis

Sex

Male

Male

Male

Male

Male

Male

Female

male

Age of disease onset

49

40

40

42

41

40

37

32

Dementia

+

+

+

+

+

+

-

+

Spastic paraparesis

+

+

+

+

+

+

+

+

Cerebellar signs

-

-

-

-

-

-

-

-

Limb weakness

-

-

-

-

+

-

-

-

Psychiatric symptoms

-

-

-

-

+

-

-

+

  1. Note. + = presence, - = absent
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Alzheimer's Research & Therapy

ISSN: 1758-9193