Hereditary spastic paraplegias (HSPs) and ataxias are genetically heterogeneous disorders, with more than 70 genes implicated in each group. A smaller fraction of disorders from both groups manifest both with spastic paresis and ataxia, and recognizing this phenotype helps narrowing down the differential diagnosis. Recently, homozygous and compound heterozygous mutations in CAPN1, which encode ...

BACKGROUND Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great ...

MRI of the brain was performed in 53 patients with a variety of degenerative ataxias and related disorders and 96 control subjects. Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in early cases of Friedreich's ataxia. In advanced Friedreich's ataxia there was atrophy of the vermis and medulla. The MRI features of early onset c...

The hereditary ataxias are a complex group of neurological disorders characterized by the degeneration of the cerebellum and its associated connections. The molecular mechanisms that trigger the loss of Purkinje cells in this group of diseases remain incompletely understood. Here, we report a previously undescribed dominant mouse model of cerebellar ataxia, moonwalker (Mwk), that displays motor...

We describe a Dutch family with sensory ataxia in two generations, late onset of symptoms (over the age of 40 years) and slow progression. Clinical, electrophysiological and sural nerve biopsy findings revealed a sensory polyneuropathy due to axonal degeneration of myelinated nerve fibres in four of five investigated siblings. Other neurological abnormalities in the affected family members cons...

Friedreich's ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of ...

OBJECTIVE To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and DRPLA (dentatorubropallidoluysian atrophy) CAG trinucleotide repeat expansions [(CAG)n] among persons diagnosed with hereditary SCA from Chinese families. PATIENTS AND METHODS Spinocerebellar ataxia type 1, SCA2, SCA3/MJD, SCA6, SCA7...

Advances in genetic testing have led to the identification of multiple genes associated with a hereditary risk for developing breast and other cancers. One such gene is the ataxia telangiectasia mutated (ATM) gene, which is available on many genetic panels offered to individuals with suspected hereditary risk. Genetic testing can often lead to improved understanding and clarification of risk fo...

BACKGROUND Friedreich ataxia (FA), the most common hereditary ataxia, is caused by pathological expansion of GAA repeats in the first intron of the X25 gene on chromosome 9. Since the discovery of the gene, atypical features are increasingly recognized in individuals with FA, and up to 25% of patients with recessive or sporadic ataxia do not fulfill the Harding or Quebec Cooperative Study on Fr...

PRIMARY cerebral amyloidosis is characterized by deposition of amyloid within the cerebral tissue (e.g., core of neuritic plaques and core of plaques in spongiform encephalopathies) and the cerebral and meningeal blood vessel walls (amyloid or congophilic angiopathy) in the absence of systemic amyloidosis. Primary cerebral amyloidosis has been associated with normal brain aging changes" and wit...