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 Volume 62, Number 2, January 27, 2004
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NEUROLOGY 2004;62:262-268
© 2004 American Academy of Neurology

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

C. Casali, MD PhD, E. M. Valente, MD, E. Bertini, MD, G. Montagna, BSc, C. Criscuolo, MD, G. De Michele, MD, M. Villanova, MD PhD, M. Damiano, MD, A. Pierallini, MD, F. Brancati, MD, V. Scarano, MD, A. Tessa, PhD, F. Cricchi, MD, G. S. Grieco, PhD, M. Muglia, MD, M. Carella, PhD, B. Martini, BSc, A. Rossi, MD, G. A. Amabile, MD, G. Nappi, MD, A. Filla, MD, B. Dallapiccola, MD and F. M. Santorelli, MD

From the Departments of Neurology and ORL (Drs. Casali, Damiano, Cricchi, Amabile, and Santorelli, G. Nappi), Neurological Sciences (Dr. Pierallini), and Experimental Medicine and Pathology (Drs. Brancati and Dallapiccola), La Sapienza University, Rome, Italy; CSS-Mendel Institute (Drs. Valente, Brancati, and Dallapiccola), Rome, Italy; Molecular Medicine and Department of Neurosciences (Drs. Bertini, Montagna, Tessa, and Santorelli), IRCCS-Bambino Gesù, Rome, Italy; Department of Neurological Sciences (Drs. Criscuolo, De Michele, and Scarano), Federico II University, Naples, Italy; Institute of Neurological Sciences (Drs. Villanova and Rossi), University of Siena, Italy; Molecular Neurogenetics (Dr. Grieco, B. Martini and G. Nappi), IRCCS-C. Mondino, "Mondino-Tor Vergata-S. Lucia" Center of Experimental Neurobiology, Rome, Italy; Institute of Experimental Medicine and Biotechnology (Dr. Muglia), CNR, Mangone (CS), Italy; and Telethon Institute of Genetics and Medicine (TIGEM) (Dr. Carella), Naples, Italy.

Address correspondence and reprint requests to Dr. Carlo Casali, Department of Neurology, ORL and Rehabilitation, La Sapienza University, Viale dell’Università 30, I-00185 Rome, Italy; e-mail: carlo.casali{at}uniroma1.it

Background: A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13–15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13–15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families.

Objective: To study clinically and genetically 12 Italian families with HSP and TCC.

Methods: The authors investigated 18 affected and 30 healthy individuals from 12 unrelated Italian families with recessive HSP-TCC. Clinical, neurophysiologic, and neuroradiologic studies were undertaken. All patients were negative for SPG7 mutations. Genetic linkage analyses were carried out with polymorphic DNA markers on 15q13–15.

Results: Five families were consistent with linkage, thus defining a 19.8-cM region between markers D15S1007 and D15S978, encompassing the SPG11 interval. In one consanguineous family, linkage could be firmly excluded, confirming genetic heterogeneity. Two families appeared not linked to the region, but this could not be firmly proved because of the small family size. The remaining four families were uninformative for linkage purposes.

Conclusion: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13–15.

Received May 13, 2002. Accepted in final form September 23, 2003.




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