Brain, Vol. 114, No. 2, 855-866, 1991
© 1991 Oxford University Press
research-article |
HEREDITARY ATAXIAS AND PARAPLEGIAS IN CANTABRIA, SPAIN
AN EPIDEMIOLOGICAL AND CLINICAL STUDY
Neurology and Clinical Neurophysiology, ‘Marqués de Valdecilla’ National Hospital, University of Cantabria Santander, Spain
Correspondence to:
Correspondence to: Dr José Berciano, Servicio de Neurología, Hospital Nacional Marqués de Valdecilla, 39008 Santander, Spain.
A clinical, genetic and epidemiological study of hereditary ataxias and paraplegias was conducted within a defined area (Cantabria) in Northern Spain from 1974 to 1986. The series comprised 48 index cases and 65 affected relatives. On prevalence day, 103 patients were alive, giving a prevalence of 20.2 cases per 100 000. There were 24 patients (18 families) with Friedreich's ataxia (FA), 12 (6 families) with early onset cerebellar ataxia (EOCA) differing from FA, 6 (3 families) with dominantly transmitted late onset cerebellar ataxia (LOCA), 11 with ‘idiopathic’ LOCA, 49 (9 families) with ‘pure’ hereditary spastic paraplegia (HSP), and 1 patient with congenital cerebellar ataxia. The prevalence found here is comparable with the highest figures described in previous surveys. This may in part be due to the great number of secondary cases in our series. A high frequency of parental consanguinity occurred in FA patients, ‘pseudodominant’ inheritance being observed in 1 family. The clinical features were those of classical FA except for later onset and slower course in 1 family, and retained tendon reflexes in the lower limbs in 2 cases. Such data indicate the need for modification of the essential criteria for the disease. EOCA included 4 patients with normoreflexic ataxia and 1 patient with ataxia and luteinizing hormone-releasing hormone deficiency. In addition, there were 7 patients from 2 unrelated families with a homogeneous syndrome characterized by autosomal recessive inheritance, cerebellar ataxia, retinitis pigmentosa and sensory neuropathy. This syndrome is therefore a well defined nosological entity to be added to the list of autosomal recessive mendelian phenotypes. The clinical picture of patients with LOCA was either a ‘pure’ cerebellar or a ‘cerebellar-plus’ syndrome. Genetic subgroups of ‘pure’ HSP were autosomal dominant type 1 in 5 families and type II in 2, and autosomal recessive in 2 families.
Received March 13, 1990. Revised May 22, 1990. Accepted May 29, 1990.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  A. K. Erichsen, J. Koht, A. Stray-Pedersen, M. Abdelnoor, and C. M. E. Tallaksen Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study Brain, June 1, 2009; 132(6): 1577 - 1588. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D Genis, I Ferrer, J Valls Sole, J Corral, V Volpini, H San Nicolas, J Gich, L Ramio-Torrenta, M Ferrandiz, J Puig, et al. A kindred with cerebellar ataxia and thermoanalgesia J. Neurol. Neurosurg. Psychiatry, May 1, 2009; 80(5): 518 - 523. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. M. Sanderson, J. W. Connell, T. L. Edwards, N. A. Bright, S. Duley, A. Thompson, J. P. Luzio, and E. Reid Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners Hum. Mol. Genet., January 15, 2006; 15(2): 307 - 318. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M B Muzaimi, J Thomas, S Palmer-Smith, L Rosser, P S Harper, C M Wiles, D Ravine, and N P Robertson Population based study of late onset cerebellar ataxia in south east Wales J. Neurol. Neurosurg. Psychiatry, August 1, 2004; 75(8): 1129 - 1134. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. A. Wilkinson, A. H. Crosby, C. Turner, L. J. Bradley, L. Ginsberg, N. W. Wood, A. H. Schapira, and T. T. Warner A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia Brain, May 1, 2004; 127(5): 973 - 980. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Watanabe, Y. Saito, S. Terao, T. Ando, T. Kachi, E. Mukai, I. Aiba, Y. Abe, A. Tamakoshi, M. Doyu, et al. Progression and prognosis in multiple system atrophy: An analysis of 230 Japanese patients Brain, May 1, 2002; 125(5): 1070 - 1083. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B.P.C. van de Warrenburg, R.J. Sinke, C.C. Verschuuren-Bemelmans, H. Scheffer, E.R. Brunt, P.F. Ippel, J.A. Maat-Kievit, D. Dooijes, N.C. Notermans, D. Lindhout, et al. Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis Neurology, March 12, 2002; 58(5): 702 - 708. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P McMonagle, S Webb, and M Hutchinson The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland J. Neurol. Neurosurg. Psychiatry, January 1, 2002; 72(1): 43 - 46. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. McDermott, K White, K Bushby, and P. Shaw Hereditary spastic paraparesis: a review of new developments J. Neurol. Neurosurg. Psychiatry, August 1, 2000; 69(2): 150 - 160. [Full Text] [PDF]
|
|
|
|
 |
|
 P. Coutinho, J. Barros, R. Zemmouri, J. Guimaraes, C. Alves, R. Chorao, E. Lourenco, P. Ribeiro, J. L. Loureiro, J. V. Santos, et al. Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 Families Arch Neurol, August 1, 1999; 56(8): 943 - 949. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. J. Higgins, D. H. Morton, and J. M. Loveless Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32 Neurology, January 1, 1999; 52(1): 146 - 146. [Abstract] [Full Text]
|
|
|
|
 |
|
 S.H. Subramony Topical Review: Clinical Aspects of Hereditary Ataxias J Child Neurol, September 1, 1995; 10(5): 353 - 362. [Abstract] [PDF]
|
|