Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families
Abstract Background Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar
Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of …
Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of …
[HTML][HTML] A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families
R Akram, SM Baig, H Anwar… - Pakistan Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
Background & Objectives: Ataxia is usually caused by cerebellar pathology or a decrease in
vestibular or proprioceptive afferent input to the cerebellum. It is characterized by …
vestibular or proprioceptive afferent input to the cerebellum. It is characterized by …
[HTML][HTML] A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
R Akram, H Anwar, H Muzaffar, V Turchetti, T Lau… - Genes, 2024 - mdpi.com
Background and objectives: Hereditary spastic paraplegia (HSP) is characterized by
unsteady gait, motor incoordination, speech impairment, abnormal eye movement …
unsteady gait, motor incoordination, speech impairment, abnormal eye movement …
[HTML][HTML] The Revolution of Genetic Diagnosis: An Example from Rare Disorders
S Zampatti - Genes, 2024 - mdpi.com
Since the advent of DNA sequencing, genetic analyses have been increasingly incorporated
into clinical practice to support the diagnosis of rare disorders [1]. Initially, the identification of …
into clinical practice to support the diagnosis of rare disorders [1]. Initially, the identification of …
Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate …
Y Zhou, J Xu, M Asif, N Yin, A Ejaz, M Qadir… - DNA and Cell …, 2025 - liebertpub.com
Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders
caused by a variety of gene variants. At least 44 types of SCAs have been identified to date …
caused by a variety of gene variants. At least 44 types of SCAs have been identified to date …