SPG11 spastic paraplegia

Anheim M(1), Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C.

Author information:
(1)Dépt. de Neurologie, Hôpital Civil, Centre Hospitalier Universitaire de
Strasbourg 1, place de l’Hôpital, 67000 Strasbourg, France.

Autosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus
callosum (TCC) is a rare neurodegenerative disorder often caused by mutations in
the gene encoding for spatacsin at the SPG11 locus on chromosome 15q. The
disease is characterized by progressive spastic paraparesis and mental
retardation which occur during the first two decades of life and frequently with
peripheral neuropathy. Brain magnetic resonance imaging (MRI) reveals typical
TCC with periventricular white matter changes. We describe two patients, of
Turkish descent, from the same consanguineous family and affected with SPG11 in
association with unusual early-onset parkinsonism. Parkinsonism occurred during
the very early stages of SPG11 in both patients, being in one the inaugural
symptom of the disease presented as a resting tremor with akinesia, rigidity and
expressing an initial moderate levodopa-response that progressively weakened.
The second patient presented a resting tremor with mild akinesia and no
levodopa-response. Both patients were affected with progressive spastic
paraparesis which had initially occurred at 15 and 12 years of age,
respectively, in association with mild mental retardation and an axonal
polyneuropathy. TCC with periventricular white matter changes (PWMC) was evident
by MRI and (123)I-ioflupane SPECT was abnormal. Genetic analysis detected for
both patients a new c.704_705delAT, p.H235RfsX12 homozygous mutation in SPG11.
This report provides evidence that parkinsonism may initiate SPG11-linked HSP
TCC and that SPG11 may cause juvenile parkinsonism.

DOI: 10.1007/s00415-009-0083-3
PMID: 19224311 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus