Top

Published in:

01-03-2010 | Original Communication

Complex phenotype in an Italian family with a novel mutation in SPG3A

Authors: Maria Fulvia de Leva, Alessandro Filla, Chiara Criscuolo, Alessandra Tessa, Sabina Pappatà, Mario Quarantelli, Leonilda Bilo, Silvio Peluso, Antonella Antenora, Dario Longo, Filippo M. Santorelli, Giuseppe De Michele

Published in: Journal of Neurology | Issue 3/2010

Abstract

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.

Namekawa M, Ribai P, Nelson I et al (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114CrossRefPubMed

Beetz C, Nygren AO, Schickel J et al (2006) High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926–1930CrossRefPubMed

Patrono C, Scarano V, Cricchi F et al (2005) Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat 25:506CrossRefPubMed

Tessa A, Silvestri G, de Leva MF et al (2008) A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. J Neurol 255:1090–1092CrossRefPubMed

Stevanin G, Ruberg M, Brice A (2008) Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep 8:198–210CrossRefPubMed

Zhao X, Alvarado D, Rainier S et al (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326–331CrossRefPubMed

Orlacchio A, Kawarai T, Totaro A et al (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61:849–855CrossRefPubMed

Nielsen JE, Johnsen B, Koefoed P et al (2004) Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol 11:817–824CrossRefPubMed

Brugman F, Wokke JH, Scheffer H et al (2005) Spastin mutations in sporadic adult-onset upper motor neuron syndromes. Ann Neurol 58:865–869CrossRefPubMed

10.

Meyer T, Schwan A, Dullinger JS et al (2005) Early-onset ALS with long-term survival associated with spastin gene mutation. Neurology 65:141–143CrossRefPubMed

11.

McDermott CJ, Burness CE, Kirby J et al (2006) Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 67:45–51CrossRefPubMed

12.

Orlacchio A, Patrono C, Gaudiello F et al (2008) Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. Neurology 70:1959–1966CrossRefPubMed

13.

Scarano V, Mancini P, Criscuolo C et al (2005) The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 252:901–903CrossRefPubMed

14.

Ivanova N, Claeys KG, Deconinck T et al (2007) Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol 64:706–713CrossRefPubMed

15.

Prakash B, Praefcke GJ, Renault L, Wittinghofer A, Herrmann C (2000) Structure of human guanylate-binding protein 1 representing a unique class of GTP-binding proteins. Nature 403:567–571CrossRefPubMed

Title: Complex phenotype in an Italian family with a novel mutation in SPG3A
Authors: Maria Fulvia de Leva
Alessandro Filla
Chiara Criscuolo
Alessandra Tessa
Sabina Pappatà
Mario Quarantelli
Leonilda Bilo
Silvio Peluso
Antonella Antenora
Dario Longo
Filippo M. Santorelli
Giuseppe De Michele
Publication date: 01-03-2010
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 3/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-009-5311-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Complex phenotype in an Italian family with a novel mutation in SPG3A

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2010

Early onset probable linezolid-induced encephalopathy

Acquired pendular nystagmus in multiple sclerosis: an examiner-blind cross-over treatment study of memantine and gabapentin

Acute transverse myelitis in psoriatic arthritis

Beevor’s sign in facioscapulohumeral muscular dystrophy: an old sign with new implications

Magnetization transfer imaging in ‘premanifest’ Huntington’s disease

Diagnostic value of history, physical examination and needle electromyography in diagnosing lumbosacral radiculopathy