Primary lateral sclerosis: a case report with SPECT study

Primary lateral sclerosis (PLS) is a neurodegenerative disease with progressive corticospinal involvement and characterized by lower limbs spasticity followed by upper limbs involvement, rare cranial nerve involvement, typical sparing of all sensory modalities, sphincteric function and eventually mild cognitive changes. The authors report a case of PLS in a 43-year-old woman with 3 years of clinical follow-up and extensive laboratory investigation, including a SPECT study which disclosed bilateral frontal motor area hypometabolism. Several aspects about this unique disease were reviewed, including differential diagnosis with other more common neurological disorders.

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Natural History of “Pure” Primary Lateral Sclerosis

Neurology ◽

10.1212/wnl.0000000000011771 ◽

2021 ◽

Vol 96 (17) ◽

pp. e2231-e2238 ◽

Cited By ~ 1

Author(s):

Anhar Hassan ◽

Shivam Om Mittal ◽

William T. Hu ◽

Keith A. Josephs ◽

Eric J. Sorenson ◽

...

Keyword(s):

Disease Duration ◽

Neurodegenerative Disorder ◽

Retrospective Chart Review ◽

Feeding Tube ◽

Primary Lateral Sclerosis ◽

Bulbar Onset ◽

History Of ◽

Primary Lateral ◽

Lateral Sclerosis

ObjectiveTo assess whether primary lateral sclerosis (PLS), classified as pure when the EMG is normal, converts to amyotrophic lateral sclerosis (ALS) after longitudinal follow-up.MethodsRetrospective chart review was performed of patients with pure PLS at Mayo Clinic in Rochester, MN (1990–2016). Inclusion criteria required a normal EMG during the first 4 years of symptoms.ResultsForty-three patients had pure PLS (25 female, 58%) with a median onset age of 50 years (range 38–78 years) and median follow-up at 9 years’ disease duration (range 4–36 years). The ascending paraparesis phenotype (n = 30, 70%) was most common, followed by hemiparetic onset (n = 9, 21%) and bulbar onset (n = 4, 9%). Among the 30 paraparetic-onset cases, bladder symptoms (n = 18, 60%) and dysarthria (n = 15, 50%) were more common than pseudobulbar affect (n = 9, 30%) and dysphagia (n = 8, 27%). By the last follow-up, 17 of 30 (56%) used a cane and 6 (20%) required a wheelchair. The paraparetic variant, compared with hemiparetic and bulbar onset, had the youngest onset (48 vs 56 vs 60 years, respectively; p = 0.02). Five patients died; 1 patient required a feeding tube; and none required permanent noninvasive ventilation. Two patients developed an idiopathic multisystem neurodegenerative disorder, which surfaced after 19 and 20 years. Two patients developed minor EMG abnormalities. The remainder 39 had persistently normal EMGs.ConclusionsPure PLS did not convert to ALS after a median of 9 years’ disease duration follow-up in our study population. The ascending paraparetic phenotype was most common, with earlier onset and frequent bladder involvement. After years of pure PLS, <5% develop a more pervasive neurodegenerative disorder.

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Mills’ syndrome: a case report

Neurology International ◽

10.4081/ni.2009.e15 ◽

2009 ◽

Vol 1 (1) ◽

pp. 15 ◽

Cited By ~ 1

Author(s):

Fábio Henrique De Gobbi Porto ◽

Marco Orsini ◽

Marco Antônio Araújo Leite ◽

José Moreira dos Santos ◽

Soraia Pulier ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Clinical Presentation ◽

Sensory Impairment ◽

Primary Lateral Sclerosis ◽

Diagnosis And Prognosis ◽

One Year ◽

Primary Lateral ◽

Lateral Sclerosis ◽

Mills Syndrome

The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical examination only. We can find this clinical presentation (Mills syndrome) in cases of amyotrophic lateral sclerosis (ALS), predominant upper motor neuron amyotrophic lateral sclerosis (UMN-ALS) and primary lateral sclerosis (PLS), besides its symptomatic (secondary) forms. We describe a case (initial presentation and one year follow-up) of progressive ascending hemiplegia with clinical isolated upper neuron signs and normal sensory examination, discussing its nosological status, electromyographic findings, differential diagnosis and prognosis.

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Primary lateral sclerosis: diagnosis and management

Practical Neurology ◽

10.1136/practneurol-2019-002300 ◽

2020 ◽

Vol 20 (4) ◽

pp. 262-269

Author(s):

Martin R Turner ◽

Kevin Talbot

Keyword(s):

Neurodegenerative Disorder ◽

Multidisciplinary Care ◽

Motor Neurone ◽

Lower Limbs ◽

Primary Lateral Sclerosis ◽

Research Cooperation ◽

Therapeutic Trials ◽

Characteristic Features ◽

Primary Lateral ◽

Lateral Sclerosis

Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder at the upper motor neurone extreme of the spectrum of motor neurone disease. The diagnosis is clinical and based on the characteristic features of slowly progressive spasticity beginning in the lower limbs, or more rarely with spastic dysarthria, typically presenting around 50 years of age. The absence of lower motor neurone involvement is considered to be a defining feature, but confident distinction of PLS from upper motor neurone-predominant forms of amyotrophic lateral sclerosis may be difficult in the first few years. Corticobulbar involvement in PLS is frequently accompanied by emotionality. While there may be dysphagia, gastrostomy is rarely required to maintain nutrition. Cognitive dysfunction is recognised, though dementia is rarely a prominent management issue. PLS is not necessarily life shortening. Specialised multidisciplinary care is recommended. Increasing international research cooperation is required if the aspiration of dedicated therapeutic trials for PLS is to be achieved.

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Slowly progressive dysarthria (pseudobulbar palsy) in primary lateral sclerosis

Klinische Neurophysiologie ◽

10.1055/s-0030-1250885 ◽

2010 ◽

Vol 41 (01) ◽

Author(s):

P Urban ◽

I Wellach ◽

C Pohlmann

Keyword(s):

Pseudobulbar Palsy ◽

Primary Lateral Sclerosis ◽

Primary Lateral ◽

Lateral Sclerosis

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Mills' syndrome. A clinical case of a rare degenerative pathology of the central nervous system

Spravočnik vrača obŝej praktiki (Journal of Family Medicine) ◽

10.33920/med-10-2004-07 ◽

2020 ◽

pp. 57-60

Author(s):

Konstantin Gulyabin

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Neurological Diseases ◽

Cortical Atrophy ◽

Primary Lateral Sclerosis ◽

System A ◽

The Central Nervous System ◽

Primary Lateral ◽

Lateral Sclerosis ◽

Mills Syndrome

Mills' syndrome is a rare neurological disorder. Its nosological nature is currently not completely determined. Nevertheless, Mills' syndrome is considered to be a rare variant of the degenerative pathology of the central nervous system – a variant of focal cortical atrophy. The true prevalence of this pathology is unknown, since this condition is more often of a syndrome type, observed in the clinical picture of a number of neurological diseases (primary lateral sclerosis, frontotemporal dementia, etc.) and is less common in isolated form.

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