Article

Familial Case Series of Neurodegenerative Disorders With Hematobiochemical Correlates: Insights From Four Related Patients

2026-07-08

Abstract excerpt

<title>Abstract</title> <p>Neurodegenerative disorders, including spinocerebellar ataxias (SCAs) and hereditary spastic paraplegias (HSPs), are clinically heterogeneous conditions with frequent phenotypic overlap. Familial clusters offer vital opportunities to examine intrafamilial variability and systemic disease manifestations. In this case series, we evaluated four related patients from a single pedigree via n...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b948a464-fc04-53e3-bf70-b804ece94f20
DOI: 10.21203/rs.3.rs-10191102/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Familial Case Series of Neurodegenerative Disorders With Hematobiochemical Correlates: Insights From Four Related PatientsDOI 10.21203/rs.3.rs-10191102/v1Read

Rare Neurodegenerative Diseases: Clinical and Genetic Update.Semantic proximity Read

Neurodegeneration in the elderly - When the blood type matters: An overview of the McLeod syndrome with focus on hematological features.Semantic proximity Read

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological AutopsySemantic proximity Read

OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: <i>FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME</i>Semantic proximity Read

Hereditary ataxias: overview.Semantic proximity Read

Machado Joseph disease: clinical and genetic aspects, and current treatmentSemantic proximity Read

Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.Semantic proximity Read

Machado-Joseph Disease: from first descriptions to new perspectives.Semantic proximity Read

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.Semantic proximity Read

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.Semantic proximity Read

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype–Phenotype AnalysisSemantic proximity Read

Spinocerebellar degenerations.Semantic proximity Read