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Chantal M. E. Tallaksen, MD, PhD; Elodie Guichart-Gomez; Patrice Verpillat, MD, PhD; Valérie Hahn-Barma; Merle Ruberg, PhD; Bertrand Fontaine, MD, PhD; Alexis Brice, MD; Bruno Dubois, MD, PhD; Alexandra Dürr, MD, PhD

Arch Neurol. 2003;60:1113-1118.

Background  The most frequent form of autosomal dominant hereditary spastic paraparesis is associated with the SPG4 locus, described originally as a pure form of the disease. Mutations of the SPG4 gene have been increasingly associated with reports of cognitive impairment.

Objective  To investigate cognitive function in 10 families with hereditary spastic paraparesis due to mutations in the SPG4 gene, using intrafamilial control subjects.

Patients and Methods  Neuropsychological examinations, including the Cambridge Cognitive Evaluation, were conducted in 29 carriers with identified SPG4 mutations and 29 intrafamilial controls.

Results  Carriers were not demented but had a subclinical cognitive impairment primarily affecting executive functions. The dysfunction was more severe in those carriers older than 50 years, but was correlated with the progression of the disease, not with age. Disease progression and cognitive impairment appeared to be more severe in the carriers of missense mutations than in those with truncating mutations.

Conclusion  Asymptomatic cognitive impairment mostly affecting executive functions is present in SPG4 mutation carriers and is more frequent in those with missense mutations.

From the Institut National de la Santé et de la Recherche Médicale Unit 289 (Drs Tallaksen, Ruberg, Verpillat, Brice and Dürr), Fédération de Neurologie (Drs Tallaksen, Fontaine, and Dubois and Mss Guichart-Gomez and Hahn-Barma), Département de Génétique, Cytogénétique et Embryologie (Drs Brice and Dürr), Hôpital de la Salpêtrière; and Département d'Epidémiologie, de Biostatistique et de Recherche Clinique, Hôpital Bichat-Claude Bernard (Dr Verpillat), Paris, France. Dr Verpillat is now with the Département de Santé Publique, Hôpital Louis-Mourier, Assistance Publique–Hôpitaux de Paris, Colombes, France.

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