ArticleActa neuropathologica2012
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.
Article in Acta neuropathologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 34 citations in OpenAlex.
- FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.Neuropathology and applied neurobiology · 2026Article
- Detection of TDP-43 seeds in CSF of presymptomatic and symptomatic genetic FTD/ALS.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.Acta neuropathologica · 2025Article
- Review
- Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.BMC medical genomics · 2024Review
- Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Review
- Clinical and Genetic Features of Chinese Patients WithFrontiers in genetics · 2022Article
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
- Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.Neurogenetics · 2020Article
- Spinal Cord and Motor Neuron TDP-43 Pathology in a Sporadic Inclusion Body Myositis Patient.Journal of neuropathology and experimental neurology · 2020Article
- Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.Neurobiology of aging · 2019Article
- Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.Brain : a journal of neurology · 2016Article
- Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision Medicine.International journal of molecular sciences · 2016Review
- Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants.Neurologic clinics · 2015Review
- Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.Acta neuropathologica · 2015Article
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome) have been described as a cause of autosomal dominant hereditary spastic paraplegia (HSP) known as SPG6 (spastic paraplegia-6). We present the first neuropathological description of a patient with a NIPA1 mutation, and clinical phenotype of complicated HSP with motor neuron disease-like syndrome and cognitive decline. Postmortem examination revealed degeneration of lateral corticospinal tracts and dorsal columns with motor neuron loss. TDP-43 immunostaining showed widespread spinal cord and cerebral skein-like and round neuronal cytoplasmic inclusions. We ruled out NIPA1 mutations in 419 additional cases of motor neuron disease. These findings suggest that hereditary spastic paraplegia due to NIPA1 mutations could represent a TDP-43 proteinopathy.
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