Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias

Abstract

Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

“…Similar to other communities with high consanguinity, 9,10 we found that AR HSP inheritance is predominant in Sudan. However, in our series, the complex phenotype is predominant (84%), which is in disagreement with Coutinho et al 9 who elicited a predominant pure phenotype, but in agreement with a study in South Tunisia 10 that reported 69% of complex cases.…”

“…However, in our series, the complex phenotype is predominant (84%), which is in disagreement with Coutinho et al 9 who elicited a predominant pure phenotype, but in agreement with a study in South Tunisia 10 that reported 69% of complex cases. Sudanese families with AR HSP showed a high frequency of SPG11 variants (~13%) in conformity with other populations.…”

“…8 On the contrary, AR HSP predominates in highly consanguineous communities. 7,9,10 Thin corpus callosum-associated HSP (TCC-HSP) represents a distinct subgroup accounting for approximately one-third of all AR HSP. 11 At least nine genes have been identified to be responsible for TCC-HSP.…”

Hereditary spastic paraplegia associated with thin corpus callosum

“…Clinically and genetically, AR-HSP with thin corpus callosum was poorly studied in Caucasian population. Two Caucasian families were linked to chromosome 15q13-15 10 , and one kindred was linked to chromosome 16 11 .…”

“…To our knowledge, there was only 4 Caucasian families of AR-HSP with thin corpus callosum described, including one North American 10 , one Italian 10 , one Spanish 4 , and one Portuguese family 11 . In contrast, more than 20 families of AR-HSP have been described in Japan.…”