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Adult-Onset Spinocerebellar Syndrome
Published in Charles Theisler, Adjuvant Medical Care, 2023
Spinocerebellar ataxias are inherited or acquired neurodegenerative disorders associated with progressive difficulties in muscle coordination (ataxia) causing problems with with gait and balance. Adult-onset spinocerebellar syndrome is similar to Friedreich’s ataxia with progressive ataxia, loss of proprioception, and deep tendon reflexes with a positive Babinski sign. Spino cerebellar ataxia syndromes presenting in adulthood have a broad range of causes and, despite extensive investigation, remain undiagnosed in up to 50% of cases.1 Nongenetic causes of adult-onset ataxia include vitamin deficiency states (e.g., vitamin E deficiency or B1 [thiamine] deficiency)2 and gluten intolerance in celiac disease.2
α-Mannosidosis (β-Mannosidosis)
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
It is now apparent that this disease also occurs in man. Severity of disease is variable but may be mild [59]. An example was a 44-year-old man with impaired mental development and no other neurologic abnormalities, but he had scrotal and penile angiokeratomas [60]. Deafness and speech retardation were reported in two consanguineous Turkish siblings [61]. An 18-year-old patient with bilateral hearing loss and mild cognitive impairment also had symptoms of Tourette syndrome [62]. A different spectrum was reported [63] in a patient with progressive spinocerebellar ataxia and a novel mutation. In another patient [64], there were neonatal seizures and communicating hydrocephalus.
Examine the gait
Published in Hani TS Benamer, Neurology for MRCP PACES, 2019
Q: What are the causes of cerebellar syndrome? Multiple sclerosis.Alcoholic cerebellar degeneration (usually gait ataxia).Drugs such as anticonvulsants (phenytoin and carbamazepine) and lithium.Stroke-related causes, such as ischaemia or haemorrhage.Paraneoplastic syndrome (usually with lung and breast cancer).Spinocerebellar ataxia (genetic ataxia).Idiopathic cerebellar ataxia.Friedreich’s ataxia (pes cavus, absent ankle jerks, upgoing plantars, and scoliosis).Posterior fossa tumours.Hypothyroidism.
Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario
Published in Journal of Neurogenetics, 2021
Priyanka Vishwakarma, Sarita Agarwal, Deepika Delsa Dean, Srinivasan Muthuswamy, Kausik Mandal
Spinocerebellar Ataxia (SCA) is a heterogeneous disorder with multiple subtypes. Its onset typically occurs in the third or fourth decade of life, although childhood-onset and late-adult onset have also been reported (Jayadev & Bird, 2013; Opal et al., 2020). SCA is a type of triplet repeat expansion and sometimes there could be penta and hexanucleotide repeats. However, SCA can also be caused by a point or missense mutations (Moscovich et al., 2012; van Dijk et al., 2017). SCA is a slowly progressing, inherited neurodegenerative disorder. It is a rare genetic disorder associated with progressive cerebellar degeneration affecting the global population (Bird, 2020). To date, 47 subtypes of SCA have been reported (Coarelli, Brice, & Durr, 2018). Six SCA subtypes (SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17 that are most prevalent in India are caused by the triplet (CAG (cytosine, adenine, and guanine)) trinucleotide repeat expansions in the corresponding genes (Bhandari, Thada, & Samanta, 2020; Ramachandra & Kusuma, 2015; Schöls, Bauer, Schmidt, Schulte, & Riess, 2004).
The clinical application of transcranial direct current stimulation in patients with cerebellar ataxia: a systematic review
Published in International Journal of Neuroscience, 2021
Graziella Orrù, Valentina Cesari, Ciro Conversano, Angelo Gemignani
In regard to the cerebello-cerebral tDCS, Grimaldi et al. [25] applied anodal cerebello-cerebral tDCS over right cerebellar cortex followed by single anodal tDCS over left M1. The study demonstrated, for the first time, a reduction of upper limb tremor and hypermetria in dominant spinocerebellar ataxia (type 2). Later, Bodriaghien et al. [10] found a significant reduction of postural tremor after anodal tDCS delivered over right cerebellar cortex and cathodal tDCS over contralateral M1 compared to the baseline. Despite the uncourageous results about the effectiveness of cerebello-cerebral tDCS, there is some limitations that preclude robust conclusions: the first is the small sample size [10,25]. A second limitation is the lack of investigation of tDCS after-effects [25] the lack of successive recordings during repeated administrations over several weeks in order to characterize the dynamic profile of the response and the impact on daily life [10].
Presumed spinocerebellar ataxia 7: challenges without molecular diagnosis
Published in Clinical and Experimental Optometry, 2021
He Li, Fatoumata Yanoga, Mohamed H Abdel-Rahman, Colleen M Cebulla
Although the disorder has an autosomal dominant inheritance pattern, a family history of neurologic disease was not present in this case, which limited the ability to confirm the diagnosis of spinocerebellar ataxia type 7. The family of the patient specifically reported that the parents of the patient died from non-neurological causes; however, documentation of the family history was unavailable. It is possible that the parents of the patient died prior to manifesting symptoms or only exhibited mild symptoms that were never recognised. Previous reports of spinocerebellar ataxia type 7 have shown marked variability in symptom severity and age of onset.7 Anticipation of the disorder may lead to a significantly earlier and more severe presentation in subsequent generations. Lastly, the development of new mutations leading to clinical spinocerebellar ataxia type 7 has also been reported.8