Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal dominant complex spastic paraplegia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant complex spastic paraplegia

MONDO:0015087

Also known as:autosomal dominant complex HSPautosomal dominant complex SPGautosomal dominant complex hereditary spastic paraplegia

Overview

Autosomal dominant form of complex hereditary spastic paraplegia.

OnsetLATE, ANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: later in life, before birth.

GeneReviews

Clinical Guidance

BSCL2-related neurologic disorders affect both the lower and upper motor neurons. Detailed clinical and electrophysiologic studies in 90 individuals with the pathogenic variant showed incomplete penetrance, clinical intrafamilial variability with several phenotypic subtypes being reported (even within the same family), and broad variation in disease severity, suggesting a subdivision into the following six main phenotypes (subtypes 1-6), all of which can be seen in the same family . Subtype 1. No signs or symptoms. No clinical or electrophysiologic abnormalities are present. Subtype 2. Clinical signs but no symptoms. Suggestive clinical signs include foot deformity, mild asymmetric thenar wasting, brisk lower-limb deep-tendon reflexes (DTRs), and/or electrophysiologic abnormalities.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

The phenotypic spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth disease type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17.

Suggestive Findings

BSCL2-related neurologic disorders should be suspected in individuals with the following clinical and electrophysiologic features.

Clinical features

Source: GeneReviews — "BSCL2-Related Neurologic Disorders/ Seipinopathy"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal dominant complex spastic paraplegia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with BSCL2-related neurologic disorders, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Annual neurologic evaluation of gait, strength, muscular atrophy, and deep tendon reflexes by a neurologist is appropriate.

Source: GeneReviews — "BSCL2-Related Neurologic Disorders/ Seipinopathy"

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant complex spastic paraplegia.

16 publications have been identified in PubMed for autosomal dominant complex spastic paraplegia. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	7	44%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:100979

GARD

Genetic and Rare Diseases Info Center

GARD:19770

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

autosomal dominant complex spastic paraplegia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Prevention of Secondary Complications

Surveillance

Evaluation of Relatives at Risk

Therapies Under Investigation

Therapies Under Investigation

Clinical Trials

Recent Publications

autosomal dominant complex spastic paraplegia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Prevention of Secondary Complications

Surveillance

Evaluation of Relatives at Risk

Therapies Under Investigation

Therapies Under Investigation

Clinical Trials

Recent Publications